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Alpha-thalassaemia: prevalence and pattern in northern Pakistan
1Haematology Department, Armed Forces Institute of Pathology, Rawalpindi.
JPMA. the Journal of the Pakistan Medical Association
|October 1, 1991
Summary
This study screened 500 cord blood samples in Pakistan for Hb Bart's, revealing a 2.4% prevalence of the alpha-thalassemia gene carrier state. This simple screening method helps understand gene prevalence in populations.
Area of Science:
- Genetics
- Hematology
- Public Health
Background:
- Alpha-thalassemia is a genetic blood disorder.
- Hb Bart's levels in cord blood indicate alpha-thalassemia gene inheritance.
- Population screening is crucial for understanding genetic disorder prevalence.
Purpose of the Study:
- To determine the prevalence of the alpha-thalassemia gene in northern Pakistan.
- To utilize Hb Bart's levels in cord blood as a screening tool.
- To identify carrier groups based on Hb Bart's concentration.
Main Methods:
- Analysis of 500 cord blood samples collected between 1986-1987.
- Quantification of Hemoglobin Bart's (Hb Bart's) concentration using electrophoresis.
- Categorization of samples into distinct groups based on Hb Bart's levels.
Main Results:
- Hb Bart's was detected in 12 neonates, indicating a 2.4% prevalence of alpha-thalassemia carriers.
- Two carrier groups were identified: 75% with 2.0-3.5% Hb Bart's (alpha-thalassemia-2) and 25% with 5.8-6.3% Hb Bart's (alpha-thalassemia-1).
- No cases of Hb H disease or Hb Bart's hydrops fetalis were observed.
Conclusions:
- Hb Bart's screening in cord blood is an effective method for estimating alpha-thalassemia gene prevalence.
- The study identified a 2.4% carrier rate for alpha-thalassemia in the studied population.
- Further research can guide public health strategies for managing thalassemia.
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