IthaID: 2500

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 47 GAC>CAC [Asp>His] HGVS Name: HBA1:c.142G>C
Hb Name: Hb Hasharon Protein Info: α1 47(CE5) Asp>His

Context nucleotide sequence:

Protein sequence:

Also known as: Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37838
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Ashkenazi Jews, Brazilian, British
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes


Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
429Hb Hasharonα1D-10Dual Kit Program29.14.56Heterozygote with alpha 3.7. Clinically normal in heterozygote.[PDF]
425Hb Hasharonα1D-10Dual Kit Program25.44.56Heterozygote with alpha 3.7. Clinically normal in heterozygote. [PDF]
273Hb Hasharonα1D-10Dual Kit Program21.54.53heterozygote[PDF]
430Hb Hasharonα1VARIANTβ-thal Short Program27.94.74Heterozygote with alpha 3.7. Clinically normal in heterozygote.[PDF]
426Hb Hasharonα1VARIANTβ-thal Short Program25.74.74Heterozygote with alpha 3.7. Clinically normal in heterozygote.[PDF]
274Hb Hasharonα1VARIANTβ-thal Short Program19.54.74heterozygote[PDF]
432Hb Hasharonα1VARIANT IIDual Kit Program274.207Heterozygote with alpha 3.7. Clinically normal in heterozygote.[PDF]
428Hb Hasharonα1VARIANT IIDual Kit Program25.94.205Heterozygote with alpha 3.7. Clinically normal in heterozygote.[PDF]
427Hb Hasharonα1VARIANT IIβ-thal Short Program27.14.82Heterozygote with alpha 3.7. Clinically normal in heterozygote.[PDF]
276Hb Hasharonα1VARIANT IIDual Kit Program19.24.19heterozygote[PDF]
275Hb Hasharonα1VARIANT IIβ-thal Short Program204.82heterozygote[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Halbrecht I, Isaacs WA, Lehmann H, Ben-Porat F, Hemoglobin hasharon (alpha-47 aspartic acid--histidine)., Isr. J. Med. Sci. , 3(6), 827-31, 1967 PubMed
  2. Ostertag W, Smith EW, Hb Sinai, a new alpha chain mutant alpha his 47., Humangenetik , 6(4), 377-9, 1968 PubMed
  3. Schneider RG, Ueda S, Alperin JB, Brimhall B, Jones RT, Hemoglobin sealy (alpha 2-47His-beta 2): a new variant in a Jewish family., Am. J. Hum. Genet. , 20(2), 151-6, 1968 PubMed
  4. Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009 PubMed
Created on 2014-06-05 10:43:47, Last reviewed on 2022-04-20 13:02:38 (Show full history)

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