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Abstract
Background: Haemoglobinopathies can be
quantitative (thalassemic syndromes) or qualitative
(Hb variants). Haemoglobinopathies are the most
common genetic defect globally.
The rationale of this study is to evaluate the
distribution of haemoglobinopathies in Pakistani
population. The objective of this study is to
determine the frequencies of different
haemoglobinopathies in all the referred cases for
haemoglobin electrophoresis of a tertiary care
teaching hospital.
Methods And Materials: A descriptive cross
sectional study was conducted in the department of
haematology, Holy Family Hospital, Rawalpindi.
Two thousand and five cases referred for
haemoglobin electrophoresis from September 2016
to June 2017 were included in the study using nonprobability consecutive sampling. Data regarding
patient’s age, gender, registration number, red cell
indices, hemoglobin and Hb electrophoresis were
collected through files of the data office. SPSS 22
was used to analyse the data, descriptive statistics
were calculated.
Results: Out of 2005 cases, 1934 (96.5%) were
females and 70 (3.5%) were males. Age was ranging
from 1-55 years with a mean age of 26.38±5.71 years.
Haemoglobinopathies were found in 87 (4.34%)
patients. The commonest haemoglobinopathy found
was HbD trait 44 (2.2%) followed by beta
thalssaemia trait 29 (1.4%), HbJ/HbI 6 (0.3%), beta
thalassaemia major 3 (0.1%), sickle cell trait 2 (0.1%),
thalassaemia intermedia 1 (.0%), homozygous HbD
disease 1 (.0%) and HbE trait 1 (.0%). Mean Hb(g/l),
RBCs (x10^12/l), MCV (fl), MCH (pg) and RDW-SD
were 9.22±3.08, 3.94±0.77, 75.18±11.04, 23.53±4.55 and
46.52±8.00 respectively.
Conclusion: 4.34% of 2005 cases referred for
haemoglobinopathy evaluation had
haemoglobinopathy. HbD trait (55%) and beta
thalassemia trait (33.3%) were commonest
haemoglobinopathies.
Keywords: haemoglobinopathies, thalassaemia,
haemoglobin variants, haemoglobin electrophoresis.