Haemoglobin Constant Spring (HbA2: c.427T>C) and Haemoglobin Adana (HbA2: c.179G>A) in jaundiced Malaysian term

S Shwe1, N Y Boo, H K Ong

  • 1Universiti Tunku Abdul Rahman (UTAR), Faculty of Medicine and Health Sciences, Kajang, Malaysia. boony@utar.edu.my.

Insights

Haemoglobin Constant Spring (Hb CoSp) was detected in 0.27% of jaundiced Malaysian neonates, with both cases linked to significant hyperbilirubinemia. Haemoglobin Adana was not found in this study population.

Area of Science:

  • Medical Genetics
  • Neonatal Medicine
  • Hematology

Background:

  • Haemoglobin Constant Spring (Hb CoSp) and Haemoglobin Adana (Hb Adana) are non-deletion α-thalassemia variants prevalent in Malaysia.
  • These variants can cause structural instability, leading to hemolysis and hyperbilirubinemia in neonates.

Purpose of the Study:

  • To determine the prevalence of Hb CoSp and Hb Adana in Malaysian term neonates with jaundice.
  • To investigate the association between these Hb variants and clinically significant neonatal hyperbilirubinemia (SigNH).

Main Methods:

  • Observational study involving term neonates admitted for phototherapy.
  • DNA extracted from dried blood spots was analyzed using PCR-restriction fragment length polymorphism for Hb CoSp and Hb Adana detection.
  • Positive samples were confirmed by gene sequencing.

Main Results:

  • Out of 1121 neonates, Hb CoSp was detected in two (0.27%) neonates, both of whom had SigNH (0.3%).
  • No cases of Hb Adana variant were identified in the study cohort.

Conclusions:

  • Hb CoSp is a rare variant but may be a risk factor for significant neonatal hyperbilirubinemia.
  • Hb Adana was not detected in this cohort of jaundiced Malaysian neonates.
Abstract

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