Coinheritance of Southeast Asian ovalocytosis and the β-thalassemia trait in a Malay family
Article Category: Clinical report
Published Online: Jan 31, 2017
Page range: 691 - 695
DOI: https://doi.org/10.5372/1905-7415.0905.442
Keywords
© 2015 Yamunah Raman, Mohamed Saleem, Rahimah Ahmad, Narazah Mohd Yusoff
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Background
Southeast Asian ovalocytosis (SAO) is a red blood cell membrane disorder caused by a 27 base pair (bp) deletion in the
Objectives
This report describes hematological and molecular features of a patient with both SAO and β-thalassemia and her children.
Methods
A 58-year-old Malay woman presented to our clinic with dizziness, tiredness, and easy fatigability. She was mildly anaemic. Analysis of her complete blood counts and her peripheral blood smear revealed microcytic hypochromic anaemia with large numbers of macro-ovalocytes and stomatocytes.
Results
Hemoglobin and globin gene studies revealed heterozygous β-thalassemia, and further analysis demonstrated a heterozygous 27 bp deletion on the
Conclusions
High frequencies of SAO and different β-thalassemia mutations are present in the Malaysian population, thus coinheritance of SAO and β-thalassemia is not uncommon. However, this coinheritance is rarely reported, possibly because the red blood cell indices are overlooked and peripheral smear examinations are not routine.