MUTATIONS IN SUDANESE PATIENTS SUSPECTED TO HAVE ALPHA THALASSAEMIA

MUTATIONS IN SUDANESE PATIENTS SUSPECTED TO HAVE ALPHA THALASSAEMIA

SCREENING FOR 3.7 AND 4.2 DELETION MUTATIONS IN SUDANESE PATIENTS SUSPECTED TO HAVE ALPHA THALASSAEMIA

Hussam Ali Osman1*, Sana Altahir Abdallah2
1* Biotechnology Research Laboratory, School of Pharmacy, Ahafad University for Women, Omdurman, Sudan.
2 Department of Pathology, Faculty of Medicine, Alneelain University, Khartoum, Sudan.
Keywords: Alpha Thalassaemia, Homozygous, Heterozygous, Deletion mutations, GAP-PCR
Corresponding author: Hussam Ali Osman1*
Tel: +249-911000732 Fax: +249-187579111 Email: hussomco@gmail.com

Abstract:
Background: Alpha-thalassaemia is the genetic disorders, characterised by microcytic and hypochromic anaemia. Aim: The study aimed to screen the participant blood samples for the most common types of the alpha thalassemia mutations in Africans (3.7 and 4.2 deletion mutations) and to correlate the findings with the CBC parameters. Methods: A cross-sectional study targeted 98 patients of highly suspected to have alpha thalassemia. Results: Revealed of these 98 patients, 7 were carriers for the 3.7 deletion mutation and only one patient was 3.7 homozygous deletion mutation, while all samples were negative for the 4.2 deletion mutation. The 3.7 deletion mutation was found in a Sudanese tribe of Four, Hawsa, and Rezagat, which originated from the West Africa. In the carriers of the 3.7 deletion mutation, the RBCs and HCT were significantly increased “P-value <0.05”. The RBCs were 7.230.78×1012/L in adult males and 7.210.67×1012/L in adult females while in children were 5.070.87×1012/L. The MCV and MCH were clearly decreased, but the MCHC slightly decreased. The Hb levels revealed mild decrease without statistical significance “P-value ˃0.05” in adult males were 11.70.57 g/dl and 11.250.64 g/dl in adult females while in children were 11.62.95 g/dl. The Ferritin levels were normal and the RDW_CV% means were clearly increased. The quantitative Hb electrophoresis was normal in addition to the presence of many target cells in peripheral blood picture and no one of these carriers presence with clinical manifestations indicating for anemia, but the homozygous 3.7 deletion mutation patient was anemic and his basic hematological parameters were as follows RBCs 1.38×1012/L, Hb 4.99 g/dl, HCT 11%, MCV 79.7 fl, MCH 35.5 pg, MCHC 44.5 g/dl, RDW_CV 17.7% and his Ferritin level was1807 mg/dl and this elevation due to blood transfusion. Conclusion: Confirmed the presence of the alpha thalassemia in Sudanese population for the 3.7 deletion mutation.

Name, title and affiliations of presenter:

Dr. Hussam Ali Osman (PhD)
Assistant Professor of Haematology
Ahfad University for Women
School of Pharmacy
Biotechnology Research Laboratory

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