AN OUTLOOK OF HETEROZYGOUS ΒETA-THALASSEMIA IN FAMILIES OF TRANSFUSION DEPENDENT THALASSEMIA PATIENTS.

http://doi.org/10.46536/jpumhs/2023/13.03.442

Abstract

BACKGROUND: Thalassemia is an autosomal recessive illness with chronic hemolytic anemia. One of the most

prevalent single-gene hereditary disorder in the world is beta-thalassemia. Prevalence of β-thalassemia patients is

on rise because of the increase trend of cousin marriages, illiteracy, and younger age marriages with lack of

awareness about family planning. Out of these, consanguinity is the most important factor responsible for this

rising trend. OBJECTIVE: To determine the heterozygous status of β-thalassemia in family members of

transfusion dependent thalassemia patients. METHODOLOGY: This cross sectional study was conducted from

December 2022 to May 2023 in Pathology and Pediatric Departments of Sheikh Zayed Medical College/Hospital,

Rahim Yar Khan, and Pakistan. Convenient sampling technique was used. Blood samples of the study subjects

were analyzed to determine HbF, HbA2 and HbA using Hb Electrophoresis. Peripheral blood film and Serum

Ferritin were done. Carrier and non-carrier status of each subject was determined. Status of heterozygosity was

determined by polymerase chain reaction and genetic analyses. The data was analyzed using SPSS version 25.

RESULTS: Out of 200 studied family members, 98 were male and 102 were female. 143 71.5% were unmarried

and 57 28.5% married. Whereas 155 77.5% were absolutely normal with non-carriers status while 45 22.5% were

beta thalassemia carrier with heterozygous status. Hemoglobin status among studied individuals showed an

increase in HbF 2110.5%, HbA2 4522.5% and HbA 55 27.5%. Pattern of heterozygosity revealed, 6231% in

paternal cousin, followed by 4924.5% in maternal cousin, 2613% in niece, 157.5% in paternal uncle, 147% in

paternal aunt, 105% in maternal aunt, 84% in maternal uncle, 63% in sister, 52.5% in nephew, 42% in sister-in

law, and 0.5% in brother. CONCLUSION: A high number of heterozygous beta thalassemia family members of

a transfusion dependent thalassemia patient strongly suggest the screening for β-thalassemia trait and

heterozygous status in all family members. Young people need to learn about their carrier status and

heterozygosity as early as possible so that they can consider all of their options, including getting married and

undertaking pregnancy.