| Autor: |
Saller, E., Knijnenburg, J., Harteveld, C.L., Dutly, F. |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Hemoglobin, 44(3), 214-217. TAYLOR & FRANCIS LTD |
| Popis: |
A woman completely lacking Hb A(2)on the high performance liquid chromatography (HPLC) analysis, presented with a novel deletional (epsilon gamma)delta beta(0)-thal and a delta-globin gene variant. This combination causes a beta-thalassemia (beta-thal) minor phenotype. The woman was referred by a hematologist due to abnormal blood counts. Multiplex ligation-dependent probe amplification (MLPA) and microarray analysis showed a heterozygous, 177 kb long deletion that removed the locus control region enhancer plus the epsilon,(G)gamma and(A)gamma genes. Additional sequencing revealed a novel variantHBD: c.209G>A, p.Gly70Asp in the heterozygous state, called Hb A(2)-Gebenstorf. The combination of the two variants explains the lack of Hb A(2)in this woman. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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