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Alpha thalassemia genotypes in Kuwait.

Adekunle Adekile1, Jalaja Sukumaran2, Diana Thomas2

  • 1Department of Pediatrics, Faculty of Medicine, Kuwait University, PO Box 24923, 13110, Safat, Kuwait. adekile@hsc.edu.kw.

BMC Medical Genetics
|August 25, 2020
PubMed
Summary

The polyadenylation-1 (PA-1) mutation is the most common alpha thalassemia allele in Kuwait, causing moderate to severe HbH disease. Awareness of PA-1 and alpha-zero (α0) alleles is crucial for genetic counseling and preventing severe outcomes like Barts hydrops fetalis.

Keywords:
Alpha thalassemiaHemoglobin H diseaseKuwait

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Area of Science:

  • Medical Genetics
  • Hematology
  • Population Genetics

Background:

  • Alpha thalassemia trait is highly prevalent in Kuwait (approx. 40%).
  • A comprehensive study of prevalent alpha thalassemia alleles was lacking.
  • This study reports molecular diagnoses over a 20-year period.

Purpose of the Study:

  • To identify and characterize the prevalent alpha thalassemia alleles in the Kuwaiti population.
  • To understand the genetic basis of alpha thalassemia in Kuwait.
  • To inform genetic counseling and public health strategies.

Main Methods:

  • Retrospective analysis of α-globin genotypes from 1994-2015.
  • Molecular genotyping using PCR and hybridization techniques (Vienna Lab Strip Assay).
  • Analysis of 400 samples from individuals across a wide age range.

Main Results:

  • The polyadenylation-1 (PA-1) mutation was the most frequent allele (0.59), found in homozygosity (33.3%) and heterozygosity (32.3%).
  • The α0 (--MED) allele occurred with a frequency of 0.017.
  • Rare alleles including α0 (--FIL), Hb Constant Spring, Hb Adana, and Hb Icaria were identified.

Conclusions:

  • Nondeletional PA-1 is the primary cause of moderate to severe HbH disease in Kuwait.
  • The presence of α0 (--MED) necessitates careful premarital counseling to address risks of alpha thalassemia major (Barts hydrops fetalis).
  • A diverse range of alpha thalassemia alleles exists in Kuwait, with PA-1 being predominant.