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Year : 2020  |  Volume : 9  |  Issue : 1  |  Page : 23-29

Sickle ß-globin haplotypes among patients with sickle cell anemia in Basra, Iraq: A cross-sectional study

1 Basra Center for Hereditary Blood Diseases, Basra Health Directorate, Basra, Iraq
2 Department of Pathology, College of Medicine, Al-Nahrain University, Baghdad, Iraq
3 Department of Pediatrics, College of Medicine, University of Basra, Basra, Iraq

Correspondence Address:
Prof. Mea`ad Kadhum Hassan
Department of Pediatrics, College of Medicine, University of Basra, Basra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijh.ijh_20_19

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BACKGROUND: Sickle cell disease is a monogenic disease with heterogeneous clinical course. Many genetic factors such as inheritance of α-thalassemia trait and fetal hemoglobin (Hb) level, related to the presence of specific haplotypes, are among the factors that modify disease severity. OBJECTIVES: To identify βS haplotypes of children with sickle cell anemia (SCA) in Basra and assess the association of clinical variables and hematological parameters with different βS haplotypes. PATIENTS AND METHODS: This analytical cross-sectional study included 62 patients with SCA registered at Basra Center of Hereditary Blood Disease. In addition to clinical data, blood samples were obtained for complete blood count, lactate dehydrogenase and polymerase chain reaction, and Sanger sequencing analysis of HBB gene. Statistical analysis was done using SPSS program version (23) software. RESULTS: The mean age of studied patients was 7.15 ± 3.81 years, with a male to female ratio of 1:1.7. The most common haplotype was the Arab Indian (AI) in 34 (54.8%) patients, followed by Benin and Senegal haplotypes in 12 (19.4%) patients for each, and an atypical haplotype in 4 (6.5%) patients. No significant differences were found in the mean age of diagnosis, the frequency of vaso-occlusive crises, blood transfusions and hospitalizations among patients with different βS haplotypes, P >0.05. However, patients with AI haplotype have significantly higher Hb, red blood cell count, hematocrit and fetal Hb compared to other haplotypes, P < 0.05. CONCLUSIONS: The AI is the most common haplotype among SCA patients from Basra and it was associated with significantly higher Hb, hematocrit, and fetal Hb levels.

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