Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family.
Hematology
; 28(1): 2187154, 2023 Dec.
Article
in En
| MEDLINE
| ID: mdl-36939273
ABSTRACT
BACKGROUND:
Hb Chapel Hill [Alpha2 74(EF3) Asp > Gly] results from an GAC > GGC substitution at codon 74 of the HBA1 or HBA2 genes. Hb Chapel Hill has not been reported since 1986.METHODS:
A heterozygous mutation, HBA2 c.224A > G, was identified in the proband, her father and sister. We compared the haematological and clinical data of this family with the data reported in the limited number of individuals.RESULTS:
Having excluded iron deï¬ciency, the Hb Chapel Hill was asymptomatic in heterozygous state. The cases presented here characterize cases in new techniques including capillary electrophoresis (CE). Two aberrant peaks were identified by CE, a major peak migrating in the zone 7 that correspond to Hb Chapel Hill (αChapel Hill 2ß2) and a minor peak migrating in the zone 1 that correspond to Hb Chapel Hill2 (αChapel Hill 2δ2). Focusing on the variant expression, the Hb Chapel Hill plus Hb A2 variant were around 18.9-20.6% of total Hb in three members.CONCLUSION:
This data will be useful for providing up-to-date and high quality information on the Hb Chapel Hill.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hemoglobins, Abnormal
/
Alpha-Thalassemia
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Hematology
Journal subject:
HEMATOLOGIA
Year:
2023
Document type:
Article