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Coexistence of Southeast Asian ovalocytosis and β‐thalassemia: A molecular and hematological analysis
Author(s) -
Fucharoen Goonnapa,
Fucharoen Supan,
Singsanan Sanita,
Sanchaisuriya Kanokwan
Publication year - 2007
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.20818
Subject(s) - microcytosis , thalassemia , proband , compound heterozygosity , biology , genetics , microcytic anemia , mutation , medicine , microbiology and biotechnology , anemia , gene , iron deficiency
We describe hematological and molecular characterization of a Thai famale who had Southeast Asian ovalocytosis (SAO) associated with β + ‐thalassemia trait. The proband had mild microcytosis with Hb 12.9 g/dl, Hct 35.8%, MCV 74.4 fl, MCH 26.8 pg, MCHC 36.0 g/dl, and elevated Hb A 2 (5.6%), characteristics of β‐thalassemia trait. Peripheral blood film examination revealed prominent ovalocytosis. However, a one‐tube osmotic fragility (OF) test commonly used for thalassemia screening was negative and a normal OF curve was observed. Further polymerase chain reaction (PCR) analyses identified the β ‐28A‐G mutation in the β‐globin gene and a 27 bp deletion in erythrocyte band 3 protein gene, indicating a genetically compound heterozygote. Hematological data of the proband was comparatively presented with those of eight female and 15 male carriers of pure β‐thalassemia with the same mutation. The finding demonstrates that although the association of the SAO and β‐thalassemia does not produce a more severe clinical picture, this could lead to a mis‐screening of β‐thalassemia using an OF test as a primary screening test. Additional blood film examination followed by PCR could help in the detection of this unusual genetic interaction in the region. Am. J. Hematol., 2007. © 2006 Wiley‐Liss, Inc.