Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall

Hafiza Alauddin, Suziana Mohamad Nasir, Madzlifah Ahadon, Raja Zahratul Azma Raja Sabudin, Azlin Ithnin, Noor Hamidah Hussin, Hamidah Alias, C-Khai Loh, Zarina Abdul Latiff, Nor Azian Abdul Murad, Ainoon Othman

Research output: Contribution to journalArticle

Abstract

Haemoglobin (Hb) Lepore is a variant Hb consisting of two α-globin and two δβ-globin chains. In a heterozygote, it is associated with clinical findings of thalassaemia minor, but interactions with other haemoglobinopathies can lead to various clinical phenotypes and pose diagnostic challenges. We reported a pair of siblings from a Malay family, who presented with pallor and hepatosplenomegaly at the ages of 21 months and 14 months old. The red cell indices and peripheral blood smears of both patients showed features of thalassaemia intermedia. Other laboratory investigations of the patients showed conflicting results. However, laboratory investigation results of the parents had led to a presumptive diagnosis of compound heterozygote Hb Lepore/β-thalassaemia and co-inheritance α+-thalassaemia (-α3.7). Hb Lepore has rarely been detected in Southeast Asian countries, particularly in Malaysia. These two cases highlight the importance of family studies for accurate diagnosis, hence appropriate clinical management and genetic counseling.

Original languageEnglish
Pages (from-to)287-292
Number of pages6
JournalMalaysian Journal of Pathology
Volume37
Issue number3
Publication statusPublished - 1 Dec 2015

Fingerprint

Thalassemia
Globins
beta-Thalassemia
Heterozygote
Pallor
Hemoglobinopathies
Erythrocyte Indices
Malaysia
Genetic Counseling
Siblings
Hemoglobins
Parents
Phenotype
hemoglobin Lepore

Keywords

  • Hb Lepore
  • α-thalassaemia
  • β-thalassaemia

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cell Biology
  • Histology

Cite this

Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall. / Alauddin, Hafiza; Mohamad Nasir, Suziana; Ahadon, Madzlifah; Raja Sabudin, Raja Zahratul Azma; Ithnin, Azlin; Hussin, Noor Hamidah; Alias, Hamidah; Loh, C-Khai; Abdul Latiff, Zarina; Abdul Murad, Nor Azian; Othman, Ainoon.

In: Malaysian Journal of Pathology, Vol. 37, No. 3, 01.12.2015, p. 287-292.

Research output: Contribution to journalArticle

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