Abstract
Background: Haematologists around the world have been striving hard to identify the spectrum of bleeding diathesis.
The analysis of different bleeding disorders help in better management and outcomes of these patients. The rationale of
the study was better cure and management of these diagnosed cases.
Objective: The study aimed to identify the prevalence and classify haemoglobinopathies and thalassemia in a major
tertiary care center of capital province Punjab.
Method: The study was based on a cross sectional survey technique. The study was conducted in a retro-spective domain.
We selected a sample of around 12,000 patients for our study with purposive non-probability sampling. The sample size
comprised of 12000 patients presenting with anaemia on a complete blood count. Out of 12000 samples collected, 357
samples were rejected because of clotted/haemolized samples, rest 11643 samples were included in the study. The
duration selected for this study started from 1st January 2019 to 1st January 2020 (1 year study period). The venue for
collection of blood samples was the institute of pathology, Chughtai lab, Lahore.
Result: A total of 11643 samples received for Hb electrophoresis. Out of these 11643 cases 9145 samples turned out to
be normal. 2498(21.4%) cases were abnormal results on electrophoresis. The percentages of all the
hemoglobinopathies were calculated. Out of 2498 cases 61.2% had beta thalassemia trait, 26.5% of the population
sample had beta thalassemia of major type, however the HbD trait was identified to have a value of 5.2%, HbD
homozygous 0.3%, sickle trait .8%, sickle cell disease 0.7%, HbE trait 0.6%, delta/beta thalassemia 0.6%, sickle/beta
thalassemia 2.3%,HbE /beta thalassemia 0.4%, HbH disease 0.2%, and other rare cases constituted 0.3%. these rare
cases included one case of homozygous HbE, one case of HbC/ beta thalassemia, 3 cases in bart zone, two cases in J
zone and one single diagnosis of sickle thalassemia was detected.
Conclusion: The conclusion of the study was very staggering as the trait of thalassemia (beta type) was toping the
differential diagnosis. The second in differential was beta thalassemia of major type. Haemoglobinopathies other than
above included the trait of HbD , sickle beta thalassemia, the trait of sickle and sickle cell disease. Heterozygotes like
delta/beta, HbE/ beta thalassemia were less common.