Type and frequency of hemoglobinopathies, diagnosed in the area of Karachi, in Pakistan

Cogent Medicine

Muhammad Nadeem¹  Mehwish Taj¹  Tahir Shamsi¹  Iffat Ara¹  Munira Borhany¹  Uzma Zaidi¹  Arshi Naz¹  Shaista Shabbir¹  Abdul Sattar¹  Saqib Ansari¹  Tassneem Farzana¹  Saima Manzir¹  Jawad Hassan¹ 

[1] National Institute of Blood Disease & Bone Marrow Transplant;

关键词: hb electrophoresis;    hemoglobinopathies;    beta thalassemia;    sickle cell disorders;    hbd hemoglobinopathy;   

DOI  :  10.1080/2331205X.2016.1188875

来源: DOAJ

【 摘 要 】

Hemoglobinopathies are one of the major problems in Pakistan. A retrospective analysis of blood samples of 2731 patients from 2010 to 2014 was done at National Institute of Blood Disease & Bone Marrow Transplantation for the workup of anemia or other blood-related disorders. Whole blood samples in EDTA were collected; complete blood counts with peripheral smears were prepared. Hemoglobin (Hb) electrophoresis on Genio was performed at alkaline pH. Samples showing borderline results were further tested by high-performance liquid chromatography or for specific mutation analysis by ARMS-PCR. Out of total 2731, 935 (34.2%) patients had hemoglobinopathies. Out of these 935 patients who had hemoglobinopathies, beta thalassemia minor 51.8%, beta thalassemia major 24.1%, HbD trait 6.7, sickle/beta thalassemia 4.5%, sickle cell disease 3.9%, HbE trait 1.9%, and sickle cell trait 1.7% were most common hemoglobinopathies. Less prevalent were delta/beta thalassemia, HbE homozygous, HbD homozygous, and HbH disease.

【 授权许可】

Unknown