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Hemoglobin Alpha Normal Genotype

MedGen UID:
1809763
•Concept ID:
C5669948
•
Finding
Synonyms: (aa/aa); aa/aa; HBA Normal Genotype

Definition

A genetic finding indicating that both copies of chromosome 16 each has two functional copies of the hemoglobin alpha (HBA) genes, which includes 2 maternal alpha genes and 2 paternal alpha genes. This genotype is characterized by normal alpha globin production. [from NCI]

Professional guidelines

PubMed

Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10-year follow-up study.
Huang H, Chen M, Chen L, Zhang M, Wang Y, Lin N, Xu L
J Clin Lab Anal 2021 Oct;35(10):e23982. Epub 2021 Sep 4 doi: 10.1002/jcla.23982. PMID: 34480509Free PMC Article
Iranian patients with hemoglobin H disease: genotype-phenotype correlation.
Paridar M, Azizi E, Keikhaei B, Takhviji V, Baluchi I, Khosravi A
Mol Biol Rep 2019 Oct;46(5):5041-5048. Epub 2019 Jul 4 doi: 10.1007/s11033-019-04955-9. PMID: 31273613
Sickle cell anemia--molecular diagnosis and prenatal counseling: SGPGI experience.
Kumar R, Panigrahi I, Dalal A, Agarwal S
Indian J Pediatr 2012 Jan;79(1):68-74. Epub 2011 Jun 29 doi: 10.1007/s12098-011-0510-1. PMID: 21713598

Recent clinical studies

Etiology

RS12574989 and haplotype associated with α/β-chain imbalance and population HbA2 reduction.
Lin Q, Xie Y, Zhong X, Sun X, Wang D
BMC Med Genomics 2022 Aug 15;15(1):179. doi: 10.1186/s12920-022-01333-6. PMID: 35971149Free PMC Article
The prevalence and outcomes of α- and β-thalassemia among pregnant women in Hubei Province, Central China: An observational study.
Cheng Y, Chen M, Ye J, Yang Q, Wang R, Liu S, Su R, Song J, Gao T, Xu R, Zhao F, Zhang P, Sun G
Medicine (Baltimore) 2022 Mar 4;101(9):e28790. doi: 10.1097/MD.0000000000028790. PMID: 35244037Free PMC Article
Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China.
Wang Z, Sun W, Chen H, Zhang Y, Wang F, Chen H, Zhou Y, Huang Y, Zhou X, Li Q, Ma Y
Int J Hematol 2021 Sep;114(3):307-318. Epub 2021 Jun 30 doi: 10.1007/s12185-021-03173-z. PMID: 34195938
Alpha-thalassaemia.
Harteveld CL, Higgs DR
Orphanet J Rare Dis 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20507641Free PMC Article
Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia.
Wajcman H, Traeger-Synodinos J, Papassotiriou I, Giordano PC, Harteveld CL, Baudin-Creuza V, Old J
Hemoglobin 2008;32(4):327-49. doi: 10.1080/03630260802173833. PMID: 18654884

Diagnosis

RS12574989 and haplotype associated with α/β-chain imbalance and population HbA2 reduction.
Lin Q, Xie Y, Zhong X, Sun X, Wang D
BMC Med Genomics 2022 Aug 15;15(1):179. doi: 10.1186/s12920-022-01333-6. PMID: 35971149Free PMC Article
The -α(3.7III) subtype of α(+)-thalassemia was identified in China.
Bao X, Wang J, Qin D, Zhang R, Yao C, Liang J, Liang K, Du L
Hematology 2022 Dec;27(1):826-830. doi: 10.1080/16078454.2022.2101913. PMID: 35916627
Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China.
Wang Z, Sun W, Chen H, Zhang Y, Wang F, Chen H, Zhou Y, Huang Y, Zhou X, Li Q, Ma Y
Int J Hematol 2021 Sep;114(3):307-318. Epub 2021 Jun 30 doi: 10.1007/s12185-021-03173-z. PMID: 34195938
Haemoglobinopathies in southeast Asia.
Fucharoen S, Winichagoon P
Indian J Med Res 2011 Oct;134(4):498-506. PMID: 22089614Free PMC Article
Alpha-thalassaemia.
Harteveld CL, Higgs DR
Orphanet J Rare Dis 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20507641Free PMC Article

Therapy

Factors affecting haemoglobin dynamics in African children with acute uncomplicated Plasmodium falciparum malaria treated with single low-dose primaquine or placebo.
Onyamboko MA, Olupot-Olupot P, Were W, Namayanja C, Onyas P, Titin H, Baseke J, Muhindo R, Kayembe DK, Ndjowo PO, Basara BB, Okalebo CB, Williams TN, Uyoga S, Taya C, Bamisaiye A, Fanello C, Maitland K, Day NPJ, Taylor WRJ, Mukaka M
BMC Med 2023 Oct 20;21(1):397. doi: 10.1186/s12916-023-03105-0. PMID: 37858129Free PMC Article
Rheological properties of sickle erythrocytes in patients with sickle-cell anemia: The effect of hydroxyurea, fetal hemoglobin, and α-thalassemia.
Ballas SK, Connes P; Investigators of the Multicenter Study of Hydroxyurea in Sickle Cell Anemia
Eur J Haematol 2018 Dec;101(6):798-803. Epub 2018 Oct 9 doi: 10.1111/ejh.13173. PMID: 30204261Free PMC Article
Pegylated interferon α/ribavirin therapy enhances bone mineral density in children with chronic genotype 4 HCV infection.
Megahed A, Salem N, Fathy A, Barakat T, Alsayed MAEL, Mabood SAE, Zalata KR, Abdalla AF
World J Pediatr 2017 Aug;13(4):346-352. Epub 2017 Jan 27 doi: 10.1007/s12519-017-0013-x. PMID: 28130750
Frequencies and phenotypic consequences of association of α- and β-thalassemia alleles with sickle-cell disease in Bahrain.
Abuamer S, Shome DK, Jaradat A, Radhi A, Bapat JP, Sharif KA, Al-Touq J, Al-Asheeri A, Al-Ajami A
Int J Lab Hematol 2017 Feb;39(1):76-83. Epub 2016 Dec 16 doi: 10.1111/ijlh.12577. PMID: 27981798
Alpha-thalassemia in two Mediterranean populations.
Pirastu M, Lee KY, Dozy AM, Kan YW, Stamatoyannopoulos G, Hadjiminas MG, Zachariades Z, Angius A, Furbetta M, Rosatelli C, Cao A
Blood 1982 Aug;60(2):509-12. PMID: 7093530

Prognosis

Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis.
Fjeld B, Sudmann-Day ÅA, Grimholt RM, Larstorp ACK, Urdal P, Klingenberg O
Int J Lab Hematol 2023 Apr;45(2):250-259. Epub 2022 Dec 26 doi: 10.1111/ijlh.14010. PMID: 36567661
Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10-year follow-up study.
Huang H, Chen M, Chen L, Zhang M, Wang Y, Lin N, Xu L
J Clin Lab Anal 2021 Oct;35(10):e23982. Epub 2021 Sep 4 doi: 10.1002/jcla.23982. PMID: 34480509Free PMC Article
Comprehensive screening for coexisting heterozygous α(0)-thalassemia in hemoglobin E trait.
Polprasert C, Wongprachar P, Suksusut A, Settapiboon R, Amornsirivat S, Sophonphan J, Uaprasert N, Sucharitchan P, Rojnuckarin P
Hematology 2020 Dec;25(1):276-279. doi: 10.1080/16078454.2020.1786972. PMID: 32633642
Genetic modifiers of severity in sickle cell disease.
Chang AK, Ginter Summarell CC, Birdie PT, Sheehan VA
Clin Hemorheol Microcirc 2018;68(2-3):147-164. doi: 10.3233/CH-189004. PMID: 29614629
Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia.
Wajcman H, Traeger-Synodinos J, Papassotiriou I, Giordano PC, Harteveld CL, Baudin-Creuza V, Old J
Hemoglobin 2008;32(4):327-49. doi: 10.1080/03630260802173833. PMID: 18654884

Clinical prediction guides

The prevalence and outcomes of α- and β-thalassemia among pregnant women in Hubei Province, Central China: An observational study.
Cheng Y, Chen M, Ye J, Yang Q, Wang R, Liu S, Su R, Song J, Gao T, Xu R, Zhao F, Zhang P, Sun G
Medicine (Baltimore) 2022 Mar 4;101(9):e28790. doi: 10.1097/MD.0000000000028790. PMID: 35244037Free PMC Article
Iranian patients with hemoglobin H disease: genotype-phenotype correlation.
Paridar M, Azizi E, Keikhaei B, Takhviji V, Baluchi I, Khosravi A
Mol Biol Rep 2019 Oct;46(5):5041-5048. Epub 2019 Jul 4 doi: 10.1007/s11033-019-04955-9. PMID: 31273613
Genetic modifiers of severity in sickle cell disease.
Chang AK, Ginter Summarell CC, Birdie PT, Sheehan VA
Clin Hemorheol Microcirc 2018;68(2-3):147-164. doi: 10.3233/CH-189004. PMID: 29614629
Alpha-thalassaemia.
Harteveld CL, Higgs DR
Orphanet J Rare Dis 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20507641Free PMC Article
Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia.
Wajcman H, Traeger-Synodinos J, Papassotiriou I, Giordano PC, Harteveld CL, Baudin-Creuza V, Old J
Hemoglobin 2008;32(4):327-49. doi: 10.1080/03630260802173833. PMID: 18654884

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