18^th World Hematology Congress March 16-17, 2020 London, UK

Biography:

Mosaed Alhumaimess is Associate professor at Jouf University, SA. He started his research on Physical chemistry at King Saud University, SA. During his Ph.D. he joined research groups at Cardiff University, United Kingdom. He obtained Ph.D on 2012, and started his academic carrier as assistant professor at Jouf University, and promoted to Associate professor on 2019. Dr. Mosaed has successfully published several papers related to the area of designing new nanomaterials for catalysis applications.

Abstract:

Iron deficiency is the leading cause of anemia in developing countries like Pakistan, particularly in children and females of child bearing age. This is mainly due to inappropriate dietary iron intake and increased demand of iron during pregnancy. Iron is a major component of hemoglobin and lack of this essential element results in lower hemoglobin content in red cells. Complete blood count (CBC) can provide us with a better estimate of iron deficiency.  Red cell distribution width (RDW) is a significant CBC parameter and a credible marker of variation in red cell size (anisocytosis) on many routine hematology analyzers. RDW is usually elevated in IDA due to variation in size of erythrocytes while it is normal in beta thalasshemia trait.  Ferritin is a gold standard measure in IDA but as it is also an Acute Phase Reactant which tends to falsely elevate in various infections and inflammatory disorders. Therefore it is not of considerable significance in detection of IDA in such clinical conditions.

Objective:

The study aims to detect the sensitivity and specificity of RDW in iron deficiency anemia (IDA) and beta thalasshemia trait (TT). In under resourced areas, tests like iron studies, Ferritin assays and Hb electrophoresis are usually not available . Hence, RDW is cost effective and a reliable parameter in detecting IDA in the absence of many other diagnostic and clinical choices. .

Materials and methods:

The study was conducted at Chughtai Institute of Pathology Lahore from September 2019 –November 2019. It was a Cross sectional Prospective study and included 115 Patients which were divided in to two main groups i.e. Group 1 and Group 2. Group 1 included patients of IDA, both males and females ranging from 1-50 year of age. Patients with a hemoglobin <11g/dl, mean cell volume (MCV) < 26fl, mean cell hemoglobin (MCH) < 76 g/dl and serum ferritin <15ug were included in Group1. Group 2 included patients with beta TT having Hb A2 values of >3.5 diagnosed on Capillary Hb Electrophoresis.

Results:

Patients in Group 1 had a mean Hb of 7.5g/dl (SD±1.74), mean MCV of 68.9 fL (SD±16.7),mean MCH of 20.3 pg (SD±6.6) and a mean RDW of 21.4 % (SD±4.4). Patients in Group 2 had a mean Hb of 11.0 g/dl (SD±1.72), mean MCV of 60.9 fL (SD±4.9), mean MCH of 18.4 pg (SD±1.21) and a mean RDW of 16.3 % (SD±1.0). There was a significant difference in RDW of Group 1 and Group 2 (p value <0.001). In group 1, RDW had a sensitivity of 75.8%, specificity of 84.6%, negative predictive value of 61.11% and positive predictive value of 91.6%. In group 2, RDW had a sensitivity of 69.2%, specificity of 82.7%, negative predictive value of 85.7 % and positive predictive value of 64.2%.

Conclusion:

RDWis a reliable and useful index for the diagnosis of IDA and differentiates it from beta TT.

Biography:

Kallis Sideri is affiliated from Western Sussex Hospitals, and also present working in the Worthing Hospital NHS Foundation Trust, United Kingdom

Abstract:

a) Identify the number of patients that required blood transfusion during laparoscopic appendicectomy in our Hospital the last 10 years.

b) Is G/S really required before emergency laparoscopic procedures according to literature evidence?

c) What is the quality/ cost impact of this practice as well as financial and time impact of rejected/duplicated samples?

Method:

1. Identification of sample: electronic patient’s records and blood transfusion electronic database.

2. Sample size and time period: 1288 patients adults and children >5 years old that had emergency laparoscopic appendicectomy the last 10 years in Worthing Hospital.

3. Sample collection: consecutive and time sampling

4. Data analysis: Incidence of blood transfusion, no need for complex statistical analysis.

Results:

Only seven patients were recorded as having had blood transfusion:1) Two patients over 70 years old  postoperative blood transfusion due to other co-morbidities, 2)Two no electronic record of transfusion 3)Two patients transfused other blood products such as FFP's for INR inversion and coagulation problems, 4) One patient had caecal tumour,  transfused for anaemia and had later right hemicolectomy.

Conclusion:

Our results show that none of our patients needed intraoperative blood transfusion for vascular injury. Major haemorrhage protocol can be used when needed. We will use those data for cost improvement project.

Biography:

Maho Iwamoto works as an Assistant Professor in the Division of Gastroenterology and Hepatology, Department of Internal Medicine, Nihon University School of Medicine in Tokyo. She specializes in inflammatory bowel disease.

Abstract:

Crohn’s disease is intractable and is frequently diagnosed in younger people. No clear policies exist regarding medical treatment for seniors with this disease, and its diagnosis and treatment are often hindered by difficulties attributable to comorbidities, complex differential diagnoses, and polypharmacy. We describe an elderly-onset Crohn’s disease patient showing a marked remission-maintaining effect with no adverse events after administration of ustekinumab. A 75-year-old patient with Crohn’s disease and a history of pulmonary tuberculosis had first presented to our hospital at age 64 years, and was hospitalized. Based on physical examinations, colonoscopy, and blood test results, Crohn’s disease was diagnosed. The patient experienced secondary losses of responsiveness to two tumor necrosis factors (TNF)-alpha inhibitors and after repeated hospital admissions, she was administered ustekinumab. The patient’s symptoms, endoscopic findings, Crohn’s Disease Activity Index, serum albumin and physical activity levels improved markedly, and disease remission has been maintained for two years to date. Ustekinumab is an effective treatment option for elderly patients with intractable Crohn’s disease when TNF-alpha inhibitors are ineffective.

Biography:

AGOKENG DEMANOU SYLVIE is a PhD student of chemical pathology at the University of Buea, aged of 36 years. She is quality control manager at the Blood bank of the Bertoua regional Hospital. Before her work in public service she served as project manager in the project Kaposi’s sarcoma in Cameroon at SOCHIMIO. Actually working on a project entitle soluble transferrin receptor in the diagnosis of iron deficiency anaemia in children.
 

Abstract:

Ferritin is the principal storage protein for iron in tissues and is involved in its uptake, accumulation and release in cells. Only minute amounts of ferritin are present in plasma but in health Ferritin reflects total iron storage and is also the first laboratory index to decline with iron deficiency. It may be less accurate in children with infectious or inflammatory conditions as an acute phase reactant. Considering the fact that Cameroonian children live in such context, our objective was to study factors affecting ferritin level. A cross sectional study was carried out in children of 6 to 59 months attending the Bertoua regional hospital. Data were collected and blood distributed in EDTA and dry tubes for full blood count, CRP and Ferritin analysis. Obtained data were analysed using SPSS 20.0. 130 children were included with a mean age of 27.4 months, the mean haemoglobin was 10.46g/dl. Ferritin as preconized by WHO for the diagnosis of iron deficiency anaemia, was below 30μg/l in 3.84% (5) independently of anaemic status. Inflammation tested by CRP occurred in 37.7% (49) children. When the ferritin cut-off value was shifted to 50 μg/l, ferritin was low in 9. 2% (12) thus approaching the stated frequency of iron deficiency by Engle and al, 2013. Mean ferritin level was 343.9μg/l. A relatively high level showing that iron storage seems to remain intact in most children despite anaemic or inflammatory status. The cut-off value for iron deficiency in children should be increased to prevent severe iron deficiency anaemia.

Biography:

Mohyeldin Abdelhalim is a clinical oncologist at Alexandria Clinical Oncology Department, Alexandria University since 30/9/2015 . He have finished my 3 year clinical oncology residency there with a great experience in managing patients in medical and radiation oncology fields .

Abstract:

Statement of the Problem: Treating pediatric Hodgkin lymphoma (HL) involves a delicate balance between cure and reducing late toxicity. Fluorodeoxyglucose positron emission tomography (PET) combined with computed tomography (CT) identifies patients with early response to chemotherapy, for whom radiotherapy may be avoided. The role of PET-CT in upfront risk stratification and response–adapted treatment is evaluated in this study. Methodology & Theoretical Orientation: Patients with HL, who were younger than 18 years, were included. PET-CT was performed at baseline and after two cycles of chemotherapy. Patients were stratified into three risk groups: group 1 (stage I or II with no unfavorable features); group2 (stage I or II with bulky disease/B symptoms); and group3 (stage III/IV). A doxorubicin, bleomycin, vinblastine, dacarbazine–based regimen was used in early disease. A cyclophosphamide, vincristine, prednisolone, procarbazine, doxorubicin, bleomycin, vinblastine–based regimen was used in advanced disease.

Findings: Forty-nine patients were included. Fifteen (31%), seven (14%), and 27 (55%) patients were included in groups 1, 2, and 3, respectively. Among 36 patients who underwent staging by PET-CT at diagnosis, seven (19%) patients were upstaged and one (3%) patient was downstaged by PET compared with CT. On the basis of negative interim PET responses, 39 (80%) patients were treated without radiotherapy. The 3-year event-free survival for the entire cohort was 91 %( 65.2%) and overall survival was 100%.

Conclusion & Significance: PET-CT is an excellent stand-alone staging modality in HL. The omission of radiotherapy can be considered in patients who achieve metabolic remission on interim PET.

Biography:

Khin La Pyae Tun is a pathologist who works at Blood Research Division, Department of Medical Research, Myanmar. She has been working in research field for about 10 years. After getting her master degree in pathology, her great interest in haematology leads her to do research work focus on it. Since Myanmar is the developing county, diagnosis of haematological malignancy still rely mainly on haemato-clinical findings. Her wish to study gene muatation that can contribute towards the clinical diagnosis and management of the patients along with her research findings.

Abstract:

Myeloproliferative neoplasms (MPNs) is a group of clonal haematopoietic stem cell disorders characterized by the proliferation of one or more myeloid cell lineages. According to WHO classification, the Janus associated kinase 2 (JAK2) V617F mutation is the one of the major diagnostic criteria in BCR-ABL1 negative myeloproliferative neoplasms .The aim of this study is to detect the JAK2 (V617F) mutation in patients with myeloproliferative neoplasms to get accurate diagnosis and proper management. A total of 90 clinically diagnosed MPN patients attending to Department of Clinical Haematology ,Yangon General Hospital were enrolled in this study. The mean age was 53.4 ± 14 years which ranged from 16 to 81 years old and male and female ratio was 2.4:1.  The identification of JAK2 (V617F) point mutation was found to be positive in 44/90 MPN patients (48.9%).  According to MPN subtypes, the JAK2  mutation positivity  was found  in 19 out of 46 polycythemia vera patients ( 41.3 %), 17 out of 25 essential thrombocythemia patients (68%), 8 out of 15  primary myelofibrosis patients (53.3%),  0 of 4 others myeloproliferative neoplasms (0%).  Confirmation of each of nine JAK2 mutation positive and negative samples were done by Sanger sequencing. The arterial or venous thrombotic attack was found in 32 /44 JAK 2 mutation positive cases (72.7%) and 12 /44 JAK2 mutation negative cases (27.3 %).The association between thrombotic attack and presence of JAK2 mutation was statistically significance with p=0.000. In our study, prevalence of JAK2 (V617F) mutation was lower in polycythemia vera patients compared to other studies which showed over 90% positivity of JAK2 mutation in PV . It might be due to the secondary polycythemia in which the chronic heavy smoking is the common cause. The diagnosis of myeloproliferative neoplasms mainly relies on the molecular genetics according to WHO classification. The Allele specific PCR reaction  is sensitive, simple test and relatively cost effective. Therefore, the identification of JAK2 (V617F) somatic point mutation should be implemented as a routine diagnosis procedure for patients with chronic and suspected myeloproliferative neoplasms.

Biography:

Khin La Pyae Tun is a pathologist who works at Blood Research Division, Department of Medical Research, Myanmar. She has been working in research field for about 10 years. After getting her master degree in pathology, her great interest in haematology leads her to do research work focus on it. Since Myanmar is the developing county, diagnosis of haematological malignancy still rely mainly on haemato-clinical findings. Her wish to study gene muatation that can contribute towards the clinical diagnosis and management of the patients along with her research findings.

Abstract:

Myeloproliferative neoplasms (MPNs) is a group of clonal haematopoietic stem cell disorders characterized by the proliferation of one or more myeloid cell lineages. According to WHO classification, the Janus associated kinase 2 (JAK2) V617F mutation is the one of the major diagnostic criteria in BCR-ABL1 negative myeloproliferative neoplasms .The aim of this study is to detect the JAK2 (V617F) mutation in patients with myeloproliferative neoplasms to get accurate diagnosis and proper management. A total of 90 clinically diagnosed MPN patients attending to Department of Clinical Haematology ,Yangon General Hospital were enrolled in this study. The mean age was 53.4 ± 14 years which ranged from 16 to 81 years old and male and female ratio was 2.4:1.  The identification of JAK2 (V617F) point mutation was found to be positive in 44/90 MPN patients (48.9%).  According to MPN subtypes, the JAK2  mutation positivity  was found  in 19 out of 46 polycythemia vera patients ( 41.3 %), 17 out of 25 essential thrombocythemia patients (68%), 8 out of 15  primary myelofibrosis patients (53.3%),  0 of 4 others myeloproliferative neoplasms (0%).  Confirmation of each of nine JAK2 mutation positive and negative samples were done by Sanger sequencing. The arterial or venous thrombotic attack was found in 32 /44 JAK 2 mutation positive cases (72.7%) and 12 /44 JAK2 mutation negative cases (27.3 %).The association between thrombotic attack and presence of JAK2 mutation was statistically significance with p=0.000. In our study, prevalence of JAK2 (V617F) mutation was lower in polycythemia vera patients compared to other studies which showed over 90% positivity of JAK2 mutation in PV . It might be due to the secondary polycythemia in which the chronic heavy smoking is the common cause. The diagnosis of myeloproliferative neoplasms mainly relies on the molecular genetics according to WHO classification. The Allele specific PCR reaction  is sensitive, simple test and relatively cost effective. Therefore, the identification of JAK2 (V617F) somatic point mutation should be implemented as a routine diagnosis procedure for patients with chronic and suspected myeloproliferative neoplasms.

Biography:

Khin La Pyae Tun is a pathologist who works at Blood Research Division, Department of Medical Research, Myanmar. She has been working in research field for about 10 years. After getting her master degree in pathology, her great interest in haematology leads her to do research work focus on it. Since Myanmar is the developing county, diagnosis of haematological malignancy still rely mainly on haemato-clinical findings. Her wish to study gene muatation that can contribute towards the clinical diagnosis and management of the patients along with her research findings.

Abstract:

Myeloproliferative neoplasms (MPNs) is a group of clonal haematopoietic stem cell disorders characterized by the proliferation of one or more myeloid cell lineages. According to WHO classification, the Janus associated kinase 2 (JAK2) V617F mutation is the one of the major diagnostic criteria in BCR-ABL1 negative myeloproliferative neoplasms .The aim of this study is to detect the JAK2 (V617F) mutation in patients with myeloproliferative neoplasms to get accurate diagnosis and proper management. A total of 90 clinically diagnosed MPN patients attending to Department of Clinical Haematology ,Yangon General Hospital were enrolled in this study. The mean age was 53.4 ± 14 years which ranged from 16 to 81 years old and male and female ratio was 2.4:1.  The identification of JAK2 (V617F) point mutation was found to be positive in 44/90 MPN patients (48.9%).  According to MPN subtypes, the JAK2  mutation positivity  was found  in 19 out of 46 polycythemia vera patients ( 41.3 %), 17 out of 25 essential thrombocythemia patients (68%), 8 out of 15  primary myelofibrosis patients (53.3%),  0 of 4 others myeloproliferative neoplasms (0%).  Confirmation of each of nine JAK2 mutation positive and negative samples were done by Sanger sequencing. The arterial or venous thrombotic attack was found in 32 /44 JAK 2 mutation positive cases (72.7%) and 12 /44 JAK2 mutation negative cases (27.3 %).The association between thrombotic attack and presence of JAK2 mutation was statistically significance with p=0.000. In our study, prevalence of JAK2 (V617F) mutation was lower in polycythemia vera patients compared to other studies which showed over 90% positivity of JAK2 mutation in PV . It might be due to the secondary polycythemia in which the chronic heavy smoking is the common cause. The diagnosis of myeloproliferative neoplasms mainly relies on the molecular genetics according to WHO classification. The Allele specific PCR reaction  is sensitive, simple test and relatively cost effective. Therefore, the identification of JAK2 (V617F) somatic point mutation should be implemented as a routine diagnosis procedure for patients with chronic and suspected myeloproliferative neoplasms.

Biography:

Khin La Pyae Tun is a pathologist who works at Blood Research Division, Department of Medical Research, Myanmar. She has been working in research field for about 10 years. After getting her master degree in pathology, her great interest in haematology leads her to do research work focus on it. Since Myanmar is the developing county, diagnosis of haematological malignancy still rely mainly on haemato-clinical findings. Her wish to study gene muatation that can contribute towards the clinical diagnosis and management of the patients along with her research findings.

Abstract:

Myeloproliferative neoplasms (MPNs) is a group of clonal haematopoietic stem cell disorders characterized by the proliferation of one or more myeloid cell lineages. According to WHO classification, the Janus associated kinase 2 (JAK2) V617F mutation is the one of the major diagnostic criteria in BCR-ABL1 negative myeloproliferative neoplasms .The aim of this study is to detect the JAK2 (V617F) mutation in patients with myeloproliferative neoplasms to get accurate diagnosis and proper management. A total of 90 clinically diagnosed MPN patients attending to Department of Clinical Haematology ,Yangon General Hospital were enrolled in this study. The mean age was 53.4 ± 14 years which ranged from 16 to 81 years old and male and female ratio was 2.4:1.  The identification of JAK2 (V617F) point mutation was found to be positive in 44/90 MPN patients (48.9%).  According to MPN subtypes, the JAK2  mutation positivity  was found  in 19 out of 46 polycythemia vera patients ( 41.3 %), 17 out of 25 essential thrombocythemia patients (68%), 8 out of 15  primary myelofibrosis patients (53.3%),  0 of 4 others myeloproliferative neoplasms (0%).  Confirmation of each of nine JAK2 mutation positive and negative samples were done by Sanger sequencing. The arterial or venous thrombotic attack was found in 32 /44 JAK 2 mutation positive cases (72.7%) and 12 /44 JAK2 mutation negative cases (27.3 %).The association between thrombotic attack and presence of JAK2 mutation was statistically significance with p=0.000. In our study, prevalence of JAK2 (V617F) mutation was lower in polycythemia vera patients compared to other studies which showed over 90% positivity of JAK2 mutation in PV . It might be due to the secondary polycythemia in which the chronic heavy smoking is the common cause. The diagnosis of myeloproliferative neoplasms mainly relies on the molecular genetics according to WHO classification. The Allele specific PCR reaction  is sensitive, simple test and relatively cost effective. Therefore, the identification of JAK2 (V617F) somatic point mutation should be implemented as a routine diagnosis procedure for patients with chronic and suspected myeloproliferative neoplasms.

Biography:

Khin La Pyae Tun is a pathologist who works at Blood Research Division, Department of Medical Research, Myanmar. She has been working in research field for about 10 years. After getting her master degree in pathology, her great interest in haematology leads her to do research work focus on it. Since Myanmar is the developing county, diagnosis of haematological malignancy still rely mainly on haemato-clinical findings. Her wish to study gene muatation that can contribute towards the clinical diagnosis and management of the patients along with her research findings.

Abstract:

Myeloproliferative neoplasms (MPNs) is a group of clonal haematopoietic stem cell disorders characterized by the proliferation of one or more myeloid cell lineages. According to WHO classification, the Janus associated kinase 2 (JAK2) V617F mutation is the one of the major diagnostic criteria in BCR-ABL1 negative myeloproliferative neoplasms .The aim of this study is to detect the JAK2 (V617F) mutation in patients with myeloproliferative neoplasms to get accurate diagnosis and proper management. A total of 90 clinically diagnosed MPN patients attending to Department of Clinical Haematology ,Yangon General Hospital were enrolled in this study. The mean age was 53.4 ± 14 years which ranged from 16 to 81 years old and male and female ratio was 2.4:1.  The identification of JAK2 (V617F) point mutation was found to be positive in 44/90 MPN patients (48.9%).  According to MPN subtypes, the JAK2  mutation positivity  was found  in 19 out of 46 polycythemia vera patients ( 41.3 %), 17 out of 25 essential thrombocythemia patients (68%), 8 out of 15  primary myelofibrosis patients (53.3%),  0 of 4 others myeloproliferative neoplasms (0%).  Confirmation of each of nine JAK2 mutation positive and negative samples were done by Sanger sequencing. The arterial or venous thrombotic attack was found in 32 /44 JAK 2 mutation positive cases (72.7%) and 12 /44 JAK2 mutation negative cases (27.3 %).The association between thrombotic attack and presence of JAK2 mutation was statistically significance with p=0.000. In our study, prevalence of JAK2 (V617F) mutation was lower in polycythemia vera patients compared to other studies which showed over 90% positivity of JAK2 mutation in PV . It might be due to the secondary polycythemia in which the chronic heavy smoking is the common cause. The diagnosis of myeloproliferative neoplasms mainly relies on the molecular genetics according to WHO classification. The Allele specific PCR reaction  is sensitive, simple test and relatively cost effective. Therefore, the identification of JAK2 (V617F) somatic point mutation should be implemented as a routine diagnosis procedure for patients with chronic and suspected myeloproliferative neoplasms.

Biography:

Korir has expertise in diagnostics of hematological disorders including sickle cell disease, hemophilia and leukemia. She is passionate in improving patient care in Kenya through provision of timely, accurate and highly reliable diagnostic services. Her high level skills have come through international exposure and the years of experience as a laboratory scientist at Academic Model providing Access to Healthcare (AMPATH- Moi Teaching and Referral Hospital) in Western Kenya.

Abstract:

Statement of the Problem: Lack of newborn screening (NBS) for sickle cell diseases (SCD) contributes significantly to increased infant mortality rates especially in Sub Saharan Africa, where majority of the affected   children die undiagnosed under the age of 5. Sickle cell disease (SCD) is a life-threatening genetic disorder that affects the red blood cells. Identification of hemoglobinopathies in some countries like Kenya is usually delayed until clinical signs of the disease appear, yet, little has been done to encourage NBS programs for SCD. Such delays in diagnosis hinder prompt intervention resulting in clinical complications as well as irreversible organ damage or death. The purpose of this paper is to describe the critical role played by NBS program for SCD in Western Kenya. Methodology & Theoretical Orientation: AMPATH-Moi Teaching and Referral Hospital NBS program for SCD was established in the year 2012 with the support from Indiana Hemophilia and Thrombosis Center (IHTC). Laboratory personnel were trained on screening for hemoglobinopathies using isoelectric focusing (IEF) technique. Children with abnormal screening results were recalled for confirmatory testing using Hb Electrophoresis. Those who were diagnosed with SCD were referred to SCD clinics for treatment and further management. Findings: Over 10,000 newborns were screened for SCD. Out of these, about 100 were diagnosed with SCD and close to 500 were found to have sickle cell trait. Those with SCD were enrolled to the clinics and are currently on follow up treatment.

Conclusion & Significance: Newborn screening program for SCD plays a major public health role that complements and enhances clinical services through reduction in mortality and improved developmental outcomes for the screened conditions. Training more lab personnel and the use of a point of care screening tools as well as nationwide efforts involving all stake holders are needed for policy development and system change.

Biography:

Giulia Ciacci, born in Perugia in 1992, is a nurse specialist in Palliative Care and Pain Management. She currently works in a Pediatric Hematology-Oncology Unit. Her interests are mainly focused on research and promotion of palliative care.

Abstract:

Acute lymphoblastic leukemia in pediatric age is analyzed through a clinical overview and then moves on to the physical and psychological needs of the child and his family during the whole treatment process. Then it was wanted to retrace the professional development and growth of the nurse, who over the years has acquired skills, autonomy and responsibility and who, within a multi-professional team, is a point of reference for the assisted and his family. In addition both the importance of nursing care in a care path in which technical-practical and above all communication-relational skills are required and the importance of a personalized care process through the use of theoretical nursing models for the detection of bio-psycho-social needs are taken into consideration. Taking care and communication/relationship can improve the quality of life of the child affected by acute lymphoblastic leukemia and his family.

Biography:

Rayan Elsheikh is affiliated from University of Khartoum, Sudan. Her research interest is in Hematology.

Abstract:

Haemophilia A is the most common X-linked inherited bleeding disorder caused by a deficiency in the activity of coagulation factor VIII, with an incidence of 1 in 5000 male births. Genetic diagnosis of Haemophilia A is the most accurate method available for carrier detection. Direct mutation detection for haemophilia A is difficult and expensive, accordingly genetic testing for carrier detection has relied upon indirect linkage studies employing polymorphic markers of Factor VIII locus.

The study aimed to investigate the usefulness of three intragenic DNA markers located in intron 18 [BclI restriction fragment length polymorphism (RFLP)], intron 13 and intron 22 CA repeats linkage analysis for carrier detection in Sudanese families. This was a prospective, cross sectional, analytical and community-based study. Following written informed consent 20 families with at least one subject affected with Haemophilia A, and 30 unrelated normal females as control group were enrolled. Polymerase chain reaction (PCR) and restriction enzyme analysis were used to study the polymorphism in BclI. Intron 13 and intron 22 CA repeats were analyzed using fluorescent PCR followed by capillary electrophoresis. The incidence of BclI (+) allele was 78%, 39.5% and 33% in patients, female relatives and control group respectively. Expected heterozygosity for BclI was 0.48 in female relatives compared with 0.46 in the female control group. However, observed heterozygosity was found to be 0.54 in female relatives   compared to 0.66 in the control group. The defective X chromosome was tracked in 13/20 (65%) mothers, hence 65% of the studied families were found to be informative using BclI-RFLP. Intron 13CA repeats were studied in 9 families. The defective X chromosome could be tracked down in 4/9 (44.4%) mothers. Intron 22 CA repeats were studied in 11 families and all families were uninformative.

PCR-RFLP using BclI is informative in carrier detection of Haemophilia A in the Sudanese population. BclI is more informative compared to both Introns 13 and Intron 22 CA repeats.