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Publication
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| Title of Article |
Five hemoglobin variants in a double heterozygote for α- and β-globin chain defects |
| Date of Acceptance |
28 April 2013 |
| Journal |
| Title of Journal |
Acta Haematol |
| Standard |
ISI |
| Institute of Journal |
Karger AG, Medical and Scientific Publishers |
| ISBN/ISSN |
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| Volume |
2014 |
| Issue |
131(2) |
| Month |
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| Year of Publication |
2014 |
| Page |
71-75 |
| Abstract |
Genetic interactions of different defective globin chains could render laboratory diagnostics in a routine setting difficult. We report a hitherto undescribed condition of double heterozygosity for hemoglobin (Hb) Q-Thailand with α(+)-thalassemia and Hb Tak found in 2 adult Thai individuals. Both patients were healthy and had no pertinent past medical history. A complete blood count revealed slight elevations of Hb and HCT values with low MCV and MCH. Interestingly, Hb analysis demonstrated, in addition to Hb A, A2, and F, as many as 5 Hb variants including Hb Tak (α(A)2β(Tak)2), Q-Thailand (α(QT)2β(A)2), QA2 (α(QT)2δ2), QF (α(QT)2γ2), and a novel variant, Hb QTak (α(QT)2β(Tak)2). Hematological findings of these unusual cases were compared with those of pure heterozygotes for Hb Q-Thailand and Hb Tak found in our series. Hb analysis using combined HPLC and capillary electrophoresis did help in the initial recognition and in making presumptive diagnoses, but definite diagnoses of these cases with complex α- and β-hemoglobinopathies could only be obtained after DNA analysis. |
| Keyword |
Hemoglobin Q-Thailand, Hemoglobin Tak, Hemoglobinopathies, Hemoglobin variants |
| Author |
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| Reviewing Status |
มีผู้ประเมินอิสระ |
| Status |
ตีพิมพ์แล้ว |
| Level of Publication |
นานาชาติ |
| citation |
true |
| Part of thesis |
true |
| Attach file |
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| Citation |
0
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Journal Publication
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