ClinVar Genomic variation as it relates to human health
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)
Variation ID: 15624 Accession: VCV000015624.54
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 16p13.3 16: 173598 (GRCh38) [ NCBI UCSC ] 16: 223597 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 29, 2015 Feb 20, 2024 Jan 19, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000517.6:c.427T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000508.1:p.Ter143Gln stop lost NC_000016.10:g.173598T>C NC_000016.9:g.223597T>C NG_000006.1:g.34461T>C NG_046165.1:g.3337T>C NG_059186.1:g.1948T>C NG_059271.1:g.5752T>C LRG_1225:g.1948T>C LRG_1240:g.5752T>C LRG_1240t1:c.427T>C LRG_1240p1:p.Ter143Gln - Protein change
- Other names
- *142Q
- *143Q
- Alpha2 142, Stop>Gln
- Canonical SPDI
- NC_000016.10:173597:T:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.00020 (C)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00006
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
HBA1 | - | - |
GRCh38 GRCh37 |
5 | 387 | |
HBA2 | - | - |
GRCh38 GRCh37 |
4 | 342 | |
LOC106804612 | - | - | - | GRCh38 | - | 279 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
other (1) |
no assertion criteria provided
|
Sep 12, 2022 | RCV000016891.13 | |
Pathogenic (1) |
no assertion criteria provided
|
Jan 1, 1992 | RCV000022602.16 | |
Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
|
Jul 27, 2022 | RCV000169546.21 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Jan 19, 2024 | RCV000508088.32 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Pathogenic
(Dec 20, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
alpha Thalassemia
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV001194098.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 03, 2020 |
Comment:
NM_000517.4(HBA2):c.427T>C(*143Qext*31, aka Hb Constant Spring) is classified as pathogenic in the context of alpha thalassemia and is classified as an alpha-plus variant. Sources cited for … (more)
NM_000517.4(HBA2):c.427T>C(*143Qext*31, aka Hb Constant Spring) is classified as pathogenic in the context of alpha thalassemia and is classified as an alpha-plus variant. Sources cited for classification include the following: PMID 4944483, 12393486, 7327587, 2298455 and 17164653. Classification of NM_000517.4(HBA2):c.427T>C(*143Qext*31, aka Hb Constant Spring) is based on the following criteria: This variant is predicted to result in protein elongation in a gene and is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
|
|
Pathogenic
(Jul 27, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
alpha Thalassemia
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002556998.2
First in ClinVar: Aug 08, 2022 Last updated: Dec 17, 2022 |
Comment:
PS4, PM1, PM4, PP1, PP5
|
|
Pathogenic
(Nov 05, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
alpha Thalassemia
Affected status: yes
Allele origin:
paternal
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Accession: SCV003921986.1
First in ClinVar: May 06, 2023 Last updated: May 06, 2023 |
Comment:
0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0108 - This gene is known to be associated with both recessive … (more)
0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0108 - This gene is known to be associated with both recessive and dominant disease (OMIM). (N) 0208 - Variant is predicted to result in an elongated protein (exon 3 of 3). (P) 0251 - Variant is heterozygous. (N) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (16 heterozygotes, 0 homozygotes). (P) 0702 - Comparable variants have strong previous evidence for pathogenicity (ClinVar). Four other elongated protein have been reported as pathogenic. (P) 0801 - Strong previous evidence of pathogenicity in multiple unrelated individuals. This is the most common pathogenic mutation reported in alpha thalassemia, known as the Hb Constant Sprint variant (ClinVar, PMID: 26757782). (P) 1206 - Variant is paternally inherited. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign (less)
|
|
Pathogenic
(Sep 19, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888134.5
First in ClinVar: Sep 30, 2017 Last updated: Jan 06, 2024 |
Comment:
The HBA2 c.427T>C (p.*143Glnext*31) variant disrupts the translation stop codon of the HBA2 mRNA and is predicted to cause abnormal HBA2 protein elongation. In the … (more)
The HBA2 c.427T>C (p.*143Glnext*31) variant disrupts the translation stop codon of the HBA2 mRNA and is predicted to cause abnormal HBA2 protein elongation. In the published literature and online databases, this variant has been reported to be damaging to HBA2 function and results in an unstable protein (PMID: 7969150 (1994)). Additionally, this variant has been reported in individuals with Hb H disease that are compound heterozygous with other pathogenic HBA2 variants, such as Hb Adana (PMIDs: 24829075 (2014), 27271331 (2016)), Hb Pakse (PMIDs: 7502632 (1995), 28244614 (2018), 30615015 (2019)), and Hb Quong (PMID: 26956449 (2016)). This variant is commonly seen with the SEA alpha-1 deletion (PMIDs: 11836160 (2002), 32925409 (2021), 36459106 (2023)). Based on the available information, this variant is classified as pathogenic. (less)
|
|
Pathogenic
(Jan 19, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000954178.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
This sequence change disrupts the translational stop signal of the HBA2 mRNA. It is expected to extend the length of the HBA2 protein by 31 … (more)
This sequence change disrupts the translational stop signal of the HBA2 mRNA. It is expected to extend the length of the HBA2 protein by 31 additional amino acid residues. This variant is present in population databases (rs41464951, gnomAD 0.07%). This protein extension has been observed in individual(s) with HBA2-related conditions (PMID: 2298455, 4944483, 12393486, 20507641). It is commonly reported in individuals of Southeast Asian ancestry (PMID: 2298455, 4944483, 12393486, 20507641). This variant is also known as Constant Spring. ClinVar contains an entry for this variant (Variation ID: 15624). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this protein extension affects HBA2 function (PMID: 6725554, 9057661). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(Nov 30, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603872.10
First in ClinVar: Sep 30, 2017 Last updated: Feb 20, 2024 |
Comment:
The Hb Constant Spring variant (HbCS, HBA2: c.427T>C; p.Ter143Gln, also known as Ter142Gln when numbered from the mature protein, rs41464951, HbVar ID: 703) is usually … (more)
The Hb Constant Spring variant (HbCS, HBA2: c.427T>C; p.Ter143Gln, also known as Ter142Gln when numbered from the mature protein, rs41464951, HbVar ID: 703) is usually asymptomatic in the heterozygous state, but may be associated with microcytosis and mild hypochromia. Homozygosity for HbCS is characterized by overt hemolytic anemia, jaundice and splenomegaly, while HbCS paired with an alpha zero-thalassemia deletion commonly results in HbH disease (Lie-Injo 1974, Nguyen 2014, HbVar database). This variant is reported in ClinVar (Variation ID: 15624), and is found in the general population with an overall allele frequency of 0.006% (16/274,340 alleles) in the Genome Aggregation Database. This variant abolishes the canonical termination codon, resulting in an unstable, elongated protein (HbVar database). Based on available information, the HbCS variant is considered to be pathogenic. References: Link to HbVar database: https://globin.bx.psu.edu/hbvar/hbvar.html Lie-Injo L et al. Homozygous state for Hb Constant Spring (slow-moving Hb X components). Blood. 1974 Feb;43(2):251-9. PMID: 4810076. Nguyen V et al. Hemoglobin Constant Spring is markedly high in women of an ethnic minority group in Vietnam: a community-based survey and hematologic features. Blood Cells Mol Dis. 2014 Apr;52(4):161-5. PMID: 24368026. (less)
|
|
Pathogenic
(Dec 03, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
alpha Thalassemia
Affected status: yes
Allele origin:
inherited
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV000746425.1
First in ClinVar: Mar 29, 2015 Last updated: Mar 29, 2015 |
Geographic origin: Iran
|
|
Pathogenic
(May 25, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001763953.3
First in ClinVar: Aug 05, 2021 Last updated: Mar 04, 2023 |
Comment:
The variant eliminates the normal Stop codon and replaces it with a Glutamine codon, ultimately extending the protein by 31 amino acids at the C-terminal … (more)
The variant eliminates the normal Stop codon and replaces it with a Glutamine codon, ultimately extending the protein by 31 amino acids at the C-terminal end of the protein; This variant is associated with the following publications: (PMID: 26757782, 24368026, 21077767, 24829075, 25523870, 23637094, 20931520, 3177365, 25897478, 26956449, 30626226, 30615015, 30275481, 34272389, 32925409, 32860378, 32338097, 29627922) (less)
|
|
other
(Sep 12, 2022)
|
no assertion criteria provided
Method: literature only
|
HEMOGLOBIN CONSTANT SPRING
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000037161.4
First in ClinVar: Apr 04, 2013 Last updated: Sep 17, 2022 |
Comment on evidence:
In this variant hemoglobin, named for the community in Jamaica where it was first discovered (Clegg et al., 1971), alpha chains have 172 amino acids … (more)
In this variant hemoglobin, named for the community in Jamaica where it was first discovered (Clegg et al., 1971), alpha chains have 172 amino acids rather than the normal 141. Clegg et al. (1971) suggested that this may reflect a chain termination mutation. Hb Constant Spring represents 1 to 2% of the hemoglobin of heterozygotes. When combined with an alpha-thalassemia mutation, Hb H disease (613978) results. It is the alpha-2 or 5-prime alpha-globin gene that is mutant in hemoglobin Constant Spring. Hemoglobin Tak (141900.0279) is a termination defect of the beta chain. Hunt and Dayhoff (1972) searched 518 known protein sequences for a 31-amino acid sequence with the largest number of identities to that of the extra piece on hemoglobin Constant Spring. The sequence that had the greatest identity (9 amino acids) was the region 68-98 of the normal alpha chain. See hemoglobin Wayne (141850.0004) for further discussion. By use of allele-specific oligonucleotide probes, Kosasih et al. (1988) demonstrated that Hb Constant Spring in a Batak Indonesian family was due to replacement of T by C in the TAA terminal codon of the alpha-2-globin gene, changing it to CAA, the codon for glutamine. This resulted in read-through of the untranslated sequence of the mRNA. Hsia et al. (1989) described a sensitive and specific DNA-based screening test for improved detection of the Constant Spring variant using polymerase chain reaction (PCR) and allele-specific oligonucleotide slot-blot hybridization. Since the Constant Spring protein is difficult to detect by electrophoresis, Hsia et al. (1989) suspected that the true incidence of the Constant Spring variant may be greater than previously suspected on the basis of protein electrophoresis. Laig et al. (1990) found Hb CS gene frequencies between 0.05 and 0.06 in northeastern Thailand. The Lao-speaking populations of the Mekong River basin were found to have the highest frequencies of the gene in Southeast Asia. To identify nondeletion types of Hb H disease in Guangxi, China, Wen et al. (1992) designed 3 primers: one specific for HBA1 DNA, another specific for HBA2 DNA, and a third that was common to the 2. In 27 of 59 Hb H cases (45.8%), it was possible to confirm the disorder as nondeletional in type. Of these, 22 (81.5%) had the Hb Constant Spring mutation and one had the Hb Quong Sze mutation (141850.0005). The nondeletion Hb H disease in Guangxi seemed to be more severe than the deletion types. (less)
|
|
Pathogenic
(Sep 02, 2021)
|
no assertion criteria provided
Method: clinical testing
|
Alpha thalassemia
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV002093851.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
|
|
Pathogenic
(Jan 01, 1992)
|
no assertion criteria provided
Method: literature only
|
HEMOGLOBIN H DISEASE, NONDELETIONAL
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000043891.4
First in ClinVar: Apr 04, 2013 Last updated: Sep 17, 2022 |
Comment on evidence:
In this variant hemoglobin, named for the community in Jamaica where it was first discovered (Clegg et al., 1971), alpha chains have 172 amino acids … (more)
In this variant hemoglobin, named for the community in Jamaica where it was first discovered (Clegg et al., 1971), alpha chains have 172 amino acids rather than the normal 141. Clegg et al. (1971) suggested that this may reflect a chain termination mutation. Hb Constant Spring represents 1 to 2% of the hemoglobin of heterozygotes. When combined with an alpha-thalassemia mutation, Hb H disease (613978) results. It is the alpha-2 or 5-prime alpha-globin gene that is mutant in hemoglobin Constant Spring. Hemoglobin Tak (141900.0279) is a termination defect of the beta chain. Hunt and Dayhoff (1972) searched 518 known protein sequences for a 31-amino acid sequence with the largest number of identities to that of the extra piece on hemoglobin Constant Spring. The sequence that had the greatest identity (9 amino acids) was the region 68-98 of the normal alpha chain. See hemoglobin Wayne (141850.0004) for further discussion. By use of allele-specific oligonucleotide probes, Kosasih et al. (1988) demonstrated that Hb Constant Spring in a Batak Indonesian family was due to replacement of T by C in the TAA terminal codon of the alpha-2-globin gene, changing it to CAA, the codon for glutamine. This resulted in read-through of the untranslated sequence of the mRNA. Hsia et al. (1989) described a sensitive and specific DNA-based screening test for improved detection of the Constant Spring variant using polymerase chain reaction (PCR) and allele-specific oligonucleotide slot-blot hybridization. Since the Constant Spring protein is difficult to detect by electrophoresis, Hsia et al. (1989) suspected that the true incidence of the Constant Spring variant may be greater than previously suspected on the basis of protein electrophoresis. Laig et al. (1990) found Hb CS gene frequencies between 0.05 and 0.06 in northeastern Thailand. The Lao-speaking populations of the Mekong River basin were found to have the highest frequencies of the gene in Southeast Asia. To identify nondeletion types of Hb H disease in Guangxi, China, Wen et al. (1992) designed 3 primers: one specific for HBA1 DNA, another specific for HBA2 DNA, and a third that was common to the 2. In 27 of 59 Hb H cases (45.8%), it was possible to confirm the disorder as nondeletional in type. Of these, 22 (81.5%) had the Hb Constant Spring mutation and one had the Hb Quong Sze mutation (141850.0005). The nondeletion Hb H disease in Guangxi seemed to be more severe than the deletion types. (less)
|
|
not provided
(-)
|
no classification provided
Method: phenotyping only
|
alpha Thalassemia
Affected status: unknown
Allele origin:
unknown
|
GenomeConnect, ClinGen
Accession: SCV001423188.1
First in ClinVar: Jul 19, 2020 Last updated: Jul 19, 2020 |
Comment:
Variant interpretted as Pathogenic and reported on 07-24-2019 by Lab or GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the patient-provided … (more)
Variant interpretted as Pathogenic and reported on 07-24-2019 by Lab or GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. (less)
Clinical Features:
Myopia (disease) (present) , Short attention span (present)
Indication for testing: Not Provided
Age: 30-39 years
Sex: female
Testing laboratory: Mayo Clinic Laboratories,Mayo Clinic
Date variant was reported to submitter: 2019-07-24
Testing laboratory interpretation: Pathogenic
|
|
not provided
(-)
|
no classification provided
Method: literature only
|
alpha Thalassemia
Affected status: unknown
Allele origin:
germline
|
GeneReviews
Accession: SCV000503052.2
First in ClinVar: Mar 29, 2015 Last updated: Oct 01, 2022 |
|
|
click to load more click to collapse |
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort. | Reiner J | Genetics in medicine : official journal of the American College of Medical Genetics | 2023 | PMID: 36459106 |
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese. | Chau JFT | NPJ genomic medicine | 2022 | PMID: 35314707 |
Molecular classification of blood and bleeding disorder genes. | Baz B | NPJ genomic medicine | 2021 | PMID: 34272389 |
Coinherited Hemoglobin H/Constant Spring Disease and Heterozygous Hemoglobin Tak Causing Severe Hemolytic Anemia in a Thai Boy. | Choed-Amphai C | Journal of pediatric hematology/oncology | 2021 | PMID: 32925409 |
Haemoglobin Constant Spring (HbA2: c.427T>C) and Haemoglobin Adana (HbA2: c.179G>A) in jaundiced Malaysian term neonates with clinically significant hyperbilirubinemia. | Shwe S | The Malaysian journal of pathology | 2020 | PMID: 32860378 |
Hematological Characteristics of Hb Constant Spring (HBA2: c.427T>C) Carriers in Mainland China. | Jiang F | Hemoglobin | 2020 | PMID: 32338097 |
Alpha-Thalassemia. | Adam MP | - | 2020 | PMID: 20301608 |
Presentation of Compound Heterozygous Hemoglobin Constant Spring and Hemoglobin Pakse in Neonates. | Komvilaisak P | Journal of pediatric hematology/oncology | 2019 | PMID: 30615015 |
Iron deficiency anemia interfering the diagnosis of compound heterozygosity for Hb constant spring and Hb Paksé: The first case report. | Chiasakul T | Journal of clinical laboratory analysis | 2018 | PMID: 28244614 |
Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China. | He J | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 28125089 |
DNA studies are necessary for accurate patient diagnosis in compound heterozygosity for Hb Adana (HBA2:c.179>A) with deletional or nondeletional α-thalassaemia. | Tan JAMA | Scientific reports | 2016 | PMID: 27271331 |
First Case of a Compound Heterozygosity for Two Nondeletional α-Thalassemia mutations, Hb Constant Spring and Hb Quong Sze. | Zhou JY | Hemoglobin | 2016 | PMID: 26956449 |
Identification of nondeletional α-thalassemia in a prenatal screening program by reverse dot-blot in southern China. | Li J | Hemoglobin | 2015 | PMID: 25523870 |
A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] with other α-thalassemias in Malay families. | Alauddin H | Hemoglobin | 2014 | PMID: 24829075 |
Molecular screening of the Hbs Constant Spring (codon 142, TAA>CAA, α2) and Paksé (codon 142, TAA>TAT, α2) mutations in Thailand. | Pichanun D | Hemoglobin | 2010 | PMID: 21077767 |
Alpha-thalassaemia. | Harteveld CL | Orphanet journal of rare diseases | 2010 | PMID: 20507641 |
Anemia and hydrops in a fetus with homozygous hemoglobin constant spring. | Charoenkwan P | Journal of pediatric hematology/oncology | 2006 | PMID: 17164653 |
Hemoglobin H disease: not necessarily a benign disorder. | Chui DH | Blood | 2003 | PMID: 12393486 |
Clinical phenotypes and molecular characterization of Hb H-Paksé disease. | Viprakasit V | Haematologica | 2002 | PMID: 11836160 |
The unusual pathobiology of hemoglobin constant spring red blood cells. | Schrier SL | Blood | 1997 | PMID: 9057661 |
Identification of several alpha-globin gene variations in a small Laotian family. | Smetanina NS | Acta haematologica | 1995 | PMID: 7502632 |
Erythroid cell-specific determinants of alpha-globin mRNA stability. | Weiss IM | Molecular and cellular biology | 1994 | PMID: 7969150 |
The nondeletional types of Hb H disease in Guangxi. | Wen XJ | Hemoglobin | 1992 | PMID: 1634361 |
The distribution of the Hb constant spring gene in Southeast Asian populations. | Laig M | Human genetics | 1990 | PMID: 2298455 |
Molecular screening for haemoglobin constant spring. | Hsia YE | Lancet (London, England) | 1989 | PMID: 2468982 |
Hemoglobin constant spring defined by specific oligonucleotide hybridization and hemoglobin D Punjab (beta 121----Gln) in a Batak Indonesian family. | Kosasih EN | American journal of hematology | 1988 | PMID: 3177365 |
Hematologic and biosynthetic studies in homozygous hemoglobin Constant Spring. | Derry S | The Journal of clinical investigation | 1984 | PMID: 6725554 |
Homozygous haemoglobin Constant Spring: a need for revision of concept. | Pootrakul P | Human genetics | 1981 | PMID: 7327587 |
The origin of the genetic material in the abnormally long human hemoglobin and chains. | Hunt LT | Biochemical and biophysical research communications | 1972 | PMID: 4623704 |
Haemoglobin Constant Spring--a chain termination mutant? | Clegg JB | Nature | 1971 | PMID: 4944483 |
click to load more click to collapse |
Text-mined citations for rs41464951 ...
HelpRecord last updated May 19, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.