Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion.
Taiwan J Obstet Gynecol
; 57(3): 435-441, 2018 Jun.
Article
em En
| MEDLINE
| ID: mdl-29880180
ABSTRACT
OBJECTIVE:
The thalassemias is a group of hereditary disorders with impaired production of functional hemoglobin. In this report we described a rare case of compound heterozygous mutation of South-East Asia type hereditary persistence of fetal hemoglobin (SEA-HPFH) and ß -thalassemia that allowed prenatal diagnosis to be performed in a subsequent pregnancy in the family. CASE REPORT The father showed a SEA-HPFH thalassemia trait phenotype, while his genotype revealed that he was heterozygous for the SEA-HPFH deletion; The mother genotype was heterozygote for IVS-II-654 mutation; the second child had co-inherited both parental mutations and was, thus, a compound heterozygote for ß-thalassemia (IVS-II-654)/SEA-HPFH deletion. His phenotype was intermediate ß-thalassemia. Prenatal genotyping of a fetal sample during the third pregnancy confirmed the fetus was only heterozygote for SEA-HPFH deletion and the parents elected to continue the pregnancy.CONCLUSION:
We described the clinical and molecular characterization of the first detected case of compound ß-Thalassemia/SEA-HPFH deletion in Northern Vietnam. The report also highlighted the accuracy and necessity of mutation screening for families with thalassemia to inform accurate genetic counseling and targeted prenatal diagnosis when desired.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
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Hemoglobina Fetal
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Deleção de Genes
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Talassemia beta
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
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Female
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Humans
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Male
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Newborn
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Pregnancy
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article