Compounded with hemoglobin Port Phillip and -α4.2 or --SEA deletions were identified in Chinese population.
Mol Genet Genomic Med
; 9(9): e1699, 2021 09.
Article
en En
| MEDLINE
| ID: mdl-34398528
ABSTRACT
INTRODUCTION:
Although over 1000 hemoglobin (Hb) variants were identified so far, Hb Port Phillip compound with α-thalassemia deletion had no reported before.METHODS:
Two patients and the associated families from Guangdong province in China were recruited. Hematological parameters were determined by blood routine examination and hemoglobin electrophoresis. Genotyping was performed by Gap-PCR and Sanger sequencing.RESULTS:
One patient was diagnosed as Hb Port Phillip, while her daughter was compounded with -α4.2 deletion, with normal Hb level (150 g/L), mean corpuscular volume (MCV) 108.4 fl and mean corpuscular hemoglobin (MCH) (30.5 pg). Another patient was diagnosed as compound Hb Port Phillip and --SEA deletion. This proband presented with more severe α-thalassemia trait than the patient compounded with -α4.2 deletion, with hemoglobin 80 g/L, MCV 61.7 fl, and MCH 18.7 pg.CONCLUSION:
Here we first time identified two patients compound with Hb Port Phillip and -α4.2 and --SEA deletions, respectively, which had never been reported. Our study widens the genotypes of hemoglobinopathy and provides reference for genetic counselling and prenatal diagnosis in this population.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fragmentos de Péptidos
/
Talasemia
/
Hemoglobinas
Tipo de estudio:
Prognostic_studies
Límite:
Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
Mol Genet Genomic Med
Año:
2021
Tipo del documento:
Article
País de afiliación:
China