Interaction of Hb Grey Lynn (Vientiane) [α91(FG3)Leu>Phe (α1)] with Hb E [β26(B8) Glu>Lys] and α(+)-thalassemia: Molecular and Hematological Analysis.

Abstract

BACKGROUND:

Hemoglobin (Hb) Grey Lynn is a Hb variant caused by a mutation at codon 91 of α1-globin gene whereas Hb E is a common β-globin chain variant among Southeast Asian population. We report two hitherto undescribed conditions of Hb Grey Lynn found in Thai individuals.

METHODS:

The study was done on two unrelated Thai subjects. Hematological parameters were recorded and Hb analysis was carried out using automated Hb analyzers. Mutations were identified by DNA analysis. Hematological features of the patients were compared with those of various forms of Hb Grey Lynn documented previously.

RESULTS:

Hb and DNA analyses identified a heterozygous Hb Grey Lynn in one patient and a double heterozygous Hb Grey Lynn and Hb E with α(+)-thalassemia in another. Interaction of α(Grey Lynn) with β(E) chains leads to the formation of a new Hb variant, namely the Hb Grey Lynn E (α(GL)2β(E)2), detectable by liquid chromatography (10.3%) but masked by Hb E on capillary electrophoresis.

CONCLUSIONS:

Interaction of these multiple globin gene defects could lead to complex hemoglobinopathies requiring combined analysis with multiple Hb analyzers followed by DNA testing to provide accurate diagnosis of the cases.

• Authors: Kritsada Singha, Goonnapa Fucharoen, Supan Fucharoen
• Journal: Clinical laboratory (Clin Lab) Vol. 61 Issue 5-6 Pg. 631-5 ( 2015) ISSN: 1433-6510 [Print] Germany
• PMID: 26118199 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Grey Lynn
• Hemoglobin E

Topics

• Female
• Hemoglobin E (genetics, metabolism)
• Hemoglobins, Abnormal (genetics, metabolism)
• Humans
• Thailand
• alpha-Thalassemia (genetics)