First Report of Filipino ß0-Thalassemia/ß-Thalassemia in a Chinese Family.
Hemoglobin
; 48(1): 34-38, 2024 Jan.
Article
in En
| MEDLINE
| ID: mdl-38192212
ABSTRACT
A pregnant woman living in Fujian Province, southeastern China, presented due to a risk of having a baby with ß-thalassemia major, during her second pregnancy, since she and her husband were suspected as ß-thalassemia carriers and their affected daughter was a transfusion-dependent patient. Using the common α-thalassemia and ß-thalassemia genotypes test, the pregnant woman was diagnosed as a ß-thalassemia carrier with ßIVS-2 - 654 (CâT)/ßN genotype and her daughter had a homozygosity for IVS - 2 - 654 (CâT) mutation, however, no abnormalities were detected in her husband. SMRT identified a Filipino ß0-deletion in her husband, and MLPA also revealed an unknown deletion in the HBB gene. Electrophoresis showed approximately 350 bp of the PCR product, and the ß-Filipino genotype presented novel fracture fragments ranging from 5,112,884 to 5,231,358 bp, and lacked a 118,475 bp fragment relative to the wild-type sequence. The daughter was therefore diagnosed with the ßIVS-2 - 654 (CâT)/ßFilipino genotype. Prenatal diagnosis with umbilical cord blood at 27th week of gestation showed heteroztgosity for IVS - 2 - 654 (CâT) mutation in the fetus and continued pregnancy was recommended. In conclusion, we identified the Filipino ß0-deletion in a Chinese family, from Fujian area, for the first time, during prenatal screening.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Beta-Thalassemia
/
Alpha-Thalassemia
Limits:
Female
/
Humans
/
Pregnancy
Country/Region as subject:
Asia
Language:
En
Journal:
Hemoglobin
Year:
2024
Document type:
Article
Affiliation country:
China