α-Thalassemia with Haemoglobin Adana mutation

Prenatal diagnosis

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Thalassaemia carriers are common in the Asian region including Malaysia. Asymptomatic patients can be undiagnosed until they present for their antenatal visits. Devastating obstetric outcome may further complicate the pregnancy if both parents are thalassaemia carriers leading to hydrophic fetus due to haemoglobin Bart’s disease. However in certain cases where unexplained hydrops fetalis occur in parents with heterozygous thalassaemia carrier,mutated α genes should be suspected. We report a twenty-nine year old woman in her third pregnancy with two previous pregnancies complicated by early neonatal death at 21 and 28 weeks of gestation due to hydrops fetalis. DNA analysis revealed the patient to have heterozygous (--SEA) α-gene deletion, while her husband has a compound heterozygosity for α3.7 deletion and codon 59 (GGC ➞ GAC) mutation of the α-gene. This mutation, also known as hemoglobin Adana, can explain hydrops fetalis resulting from two alpha gene deletions from the patient (mother) and a single alpha gene deletion with mutation from the father. The third pregnancy resulted in a grossly normal baby boy with 3 α-gene deletions (HbH disease). We postulate that, in view of heterogenisity of the α-thalassaemia in this patient with severely unstable haemoglobin Adana chains from her husband, there will be a 25% possibility of fetal hydrops in every pregnancy.

Original languageEnglish
Pages (from-to)207-211
Number of pages5
JournalMalaysian Journal of Pathology
Volume36
Issue number3
Publication statusPublished - 1 Dec 2014

Fingerprint

Thalassemia
Prenatal Diagnosis
Hydrops Fetalis
Gene Deletion
Pregnancy
Mutation
Spouses
Parents
Sequence Deletion
Malaysia
Codon
Fathers
Genes
Obstetrics
hemoglobin Adana
Fetus
Mothers
DNA

Keywords

  • Haemoglobin adana
  • Hydrop fetalis in pregnancy
  • α-thalassaemia

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cell Biology
  • Histology
  • Medicine(all)

Cite this

α-Thalassemia with Haemoglobin Adana mutation : Prenatal diagnosis. / Zainal, Nur Zaireena; Alauddin, Hafiza; Ahmad, Shuhaila; Hussin, Noor Hamidah.

In: Malaysian Journal of Pathology, Vol. 36, No. 3, 01.12.2014, p. 207-211.

Research output: Contribution to journalArticle

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