IthaID: 764

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 136 CTG>ATG [Leu>Met] HGVS Name: HBA2:c.409C>A
Hb Name: Hb Chicago Protein Info: α2 136(H19) Leu>Met

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34443
Size: 1 bp
Located at: α2
Specific Location: Exon 3


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No


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
190Hb Chicagoα2D-10Dual Kit Program82.31.69Heterozygous. Elutes as HbA. [PDF]
191Hb Chicagoα2VARIANTβ-thal Short Program842.47Heterozygous. Elutes as HbA. [PDF]
192Hb Chicagoα2VARIANT IIβ-thal Short Program852.5Heterozygous. Elutes as HbA. [PDF]
193Hb Chicagoα2VARIANT IIDual Kit Program82.31.767Heterozygous. Elutes as HbA. [PDF]
194Hb Chicagoα2VARIANT IIDual Kit Program82.31.767Heterozygous. Elutes as HbA. [PDF]

Publications / Origin

  1. Bowman JE, Bloom R, Chen SS, Webber BB, Wilson JB, Kutlar F, Kutlar A, Huisman TH, HB Chicago or alpha (2)136 (H19) Leu----Met beta 2 and a -G gamma-G gamma-globin gene arrangement in a black family., Hemoglobin , 10(5), 495-505, 1986
  2. Gu LH, Wilson JB, Molchanova TP, McKie KM, McKie VC, Huisman TH, Three sickle cell anemia patients each with a different alpha chain variant. Diagnostic complications., Hemoglobin , 17(4), 295-301, 1993
  3. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994
Created on 2010-06-16 16:13:16, Last reviewed on 2020-01-30 09:53:06 (Show full history)

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