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NM_000517.6(HBA2):c.91_93del (p.Glu31del) AND HEMOGLOBIN H HYDROPS FETALIS SYNDROME

Germline classification:
other (1 submission)
Last evaluated:
Sep 12, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002275044.9

Allele description [Variation Report for NM_000517.6(HBA2):c.91_93del (p.Glu31del)]

NM_000517.6(HBA2):c.91_93del (p.Glu31del)

Genes:
LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000517.6(HBA2):c.91_93del (p.Glu31del)
HGVS:
  • NC_000016.10:g.173003_173005del
  • NG_000006.1:g.33866_33868del
  • NG_046165.1:g.2742_2744del
  • NG_059186.1:g.1353_1355del
  • NG_059271.1:g.5157_5159del
  • NM_000517.6:c.91_93delMANE SELECT
  • NP_000508.1:p.Glu31del
  • LRG_1240t1:c.91_93del
  • LRG_1225:g.1353_1355del
  • LRG_1240:g.5157_5159del
  • LRG_1240p1:p.Glu31del
  • NC_000016.9:g.223002_223004del
  • NC_000016.9:g.223002_223004delGAG
Protein change:
E31del
Links:
OMIM: 141850.0072; dbSNP: rs281864560
NCBI 1000 Genomes Browser:
rs281864560
Molecular consequence:
  • NM_000517.6:c.91_93del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
HEMOGLOBIN H HYDROPS FETALIS SYNDROME
Identifiers:
MedGen: C3278365

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000043897OMIM
no assertion criteria provided
other
(Sep 12, 2022) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Molecular defects in Hb H hydrops fetalis.

Chan V, Chan VW, Tang M, Lau K, Todd D, Chan TK.

Br J Haematol. 1997 Feb;96(2):224-8.

PubMed [citation]
PMID:
9029003

Hb H hydrops foetalis syndrome: a case report and review of literature.

Lorey F, Charoenkwan P, Witkowska HE, Lafferty J, Patterson M, Eng B, Waye JS, Finklestein JZ, Chui DH.

Br J Haematol. 2001 Oct;115(1):72-8. Review.

PubMed [citation]
PMID:
11722414

Details of each submission

From OMIM, SCV000043897.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a patient with hemoglobin H hydrops fetalis (see 236750), Chan et al. (1997) detected a deletion of codon 30 (deltaGAG, glu) in the hemoglobin alpha-2 gene on one chromosome The other chromosome carried a large deletion that removed both alpha-globin genes and the zeta-globin (142310) gene. The mutant protein was apparently highly unstable since there was no detectable radioactive or protein peak upon in vitro globin chain synthesis. HbH was 2.5%, Hb Bart 31%, HbF 28%, and HbA 38.5%. In a review of the literature, Lorey et al. (2001) noted that this patient died minutes after birth at 39 weeks' gestation, with ascites, hepatomegaly, and placentomegaly present.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024