FREQUENCY OF HEMOGLOBINOPATHIES AND ITS RELATION WITH CONSANGUINITY AT TWO HEALTHCARE CENTERS OF PESHAWAR

Abstract

Background:

One of the most prevalent genetic disorders and major problems in Pakistan is hemoglobinopathies. Every year, 5,000 additional patients are added to the pool. Considering the medical and social implications of this familial condition, it is important to evaluate the prevalence of hemoglobinopathies across members of the family.

Material and Methods:

This cross-sectional study included 263 samples with the diagnosis of anemia and complete blood count referred for screening of HB disorder from March 2021 to February 2022 at two general hospitals Rehman medical institute (RMI) and Peshawar Institute of medical sciences (PIMS). The institutional review board approved the study then blood specimens were collected in EDTA anti-coagulated tube: a complete blood picture with a peripheral blood smear was stained with a Leishman stain was performed. Hemoglobin electrophoresis was performed at pH 8.8 (Fisher Biotech) using a commercially available electrophoresis kit.

Result:

Out of 263 Samples, Hemoglobinopathies affected 111(42.2%) people; the remaining 152(57.8%) people had a normal profile of Hb Electrophoresis. Of these 111 people with hemoglobinopathies, 86 (32.7%) had minor B-thalassemia and 22 (8.4%) had major B-thalassemia, while the rate of recurrence of sickle cell disease was 3 (1.1%). Among these, 40.3% of patients' parents are relatives with which consanguinity frequency was 37.3% and 22.4% of patients’ parents are not relatives or cousins.

Conclusion:

According to our research, cousin marriages frequently have a significant role in the development of B thalassemia minor, which affects the majority of patients. Relatives of known cases of thalassemia can be screened for hemoglobinopathies to reduce the financial and medical burden of transfusions and treatment