| dc.creator |
YILMAZ KESKİN, Ebru |
|
| dc.creator |
ÖZBAŞ, Halil |
|
| dc.creator |
ACAR, Öznur |
|
| dc.date |
2021-01-01T00:00:00Z |
|
| dc.date.accessioned |
2021-12-03T11:20:46Z |
|
| dc.date.available |
2021-12-03T11:20:46Z |
|
| dc.identifier |
426d9e00-5ad6-482c-8070-2f769f560a4a |
|
| dc.identifier |
https://avesis.sdu.edu.tr/publication/details/426d9e00-5ad6-482c-8070-2f769f560a4a/oai |
|
| dc.identifier.uri |
http://acikerisim.sdu.edu.tr/xmlui/handle/123456789/91165 |
|
| dc.description |
The diagnosis of beta-thalassemia (beta-that) trait is usually based on an elevated HbA(2) fraction (3.5% to 8%). Co-inheritance of a delta-globin variant along with beta-globin gene defects can interfere with the diagnosis of beta-that trait by causing normal HbA(2) levels. In this report, we present an infant with beta-that major whose mother's beta-that trait was missed twice before due to an accompanying delta-globin mutation (HbA(2)-Yialousa. HBD: c.82G > T). resulting in a borderline HbA(2) level. In an individual with microcytosis and hypochromia but an apparently normal HbA(2) level, compound heterozygosity for a delta-globin mutation and a beta-that mutation should be remembered in the differential diagnosis. |
|
| dc.language |
eng |
|
| dc.rights |
info:eu-repo/semantics/closedAccess |
|
| dc.title |
Missed Diagnosis of beta-Thalassemia Trait in Premarital Screening Due to Accompanying HbA(2)-Yialousa (HBD: c.82G > T) |
|
| dc.type |
info:eu-repo/semantics/article |
|