Back to Search
Start Over
Hb Nouakchott [114(GH2)ProLeu; HBA1: c.344C > T], A Second and Third Case Described in Two Unrelated Dutch Families
- Source :
- Hemoglobin, 42(1), 51-53, Hemoglobin, 42(1), 51-53. Informa Healthcare
- Publication Year :
- 2018
-
Abstract
- We report two families, members of which are carriers of a hemoglobin (Hb) variant previously described as Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T; p.Pro115Leu]. In the first family of Dutch origin, the proband, a 32-year-old male and his 65-year-old father, were both carriers of Hb Nouakchott. Of the second family we tested, only the proband, a 56-year-old Dutch female was a Hb Nouakchott carrier. Hematological analyses of these cases showed the anomaly behaves as a silent Hb variant without clinical consequences. The Hb variant remained unnoticed using high performance liquid chromatography (HPLC), while an additional peak was detected by capillary electrophoresis (CE). These independent findings of Hb Nouakchott indicate that this Hb variant might not be very rare, but simply remains under diagnosed depending on the Hb separation technique used
- Subjects :
- 0301 basic medicine
Adult
Male
Hemoglobins, Abnormal
Clinical Biochemistry
Hb Nouakchott
Biology
03 medical and health sciences
0302 clinical medicine
medicine
Humans
hemoglobinopathy
Family
Genetics (clinical)
Aged
Genetics
Genetic Carrier Screening
Biochemistry (medical)
A hemoglobin
Electrophoresis, Capillary
Hematology
Middle Aged
medicine.disease
Hemoglobinopathies
030104 developmental biology
Hemoglobinopathy
Hemoglobin (Hb) variant
030220 oncology & carcinogenesis
Mutation (genetic algorithm)
Female
mutation
Subjects
Details
- Language :
- English
- ISSN :
- 03630269
- Database :
- OpenAIRE
- Journal :
- Hemoglobin, 42(1), 51-53, Hemoglobin, 42(1), 51-53. Informa Healthcare
- Accession number :
- edsair.doi.dedup.....1674a4d4f1d7f3f03d837e5b47250fa6