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Hb Sun Prairie or alpha(2)130(H13)Ala----Pro beta 2, a new unstable variant occurring in low quantities.
M Harkness1, D R Harkness, F Kutlar
1Department of Pediatrics, University of Wisconsin, Madison 53792.
Hemoglobin
|January 1, 1990
Summary
A novel unstable hemoglobin variant, Hb Sun Prairie, caused severe hemolytic anemia in an Indian patient due to a specific alpha-globin gene mutation. This genetic finding explains the patient's microcytic hypochromic anemia.
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Background:
- Hemolytic anemia is a serious condition characterized by the premature destruction of red blood cells.
- Microcytosis and hypochromia are key indicators of abnormal hemoglobin synthesis, often seen in thalassemia and certain hemoglobinopathies.
Observation:
- A young Indian patient presented with severe hemolytic anemia, microcytosis, and hypochromia.
- Analysis revealed an unstable alpha-globin chain variant, Hb Sun Prairie, comprising 3-5% of total hemoglobin.
- Structural analysis identified an Alanine to Proline substitution at position 130 of the alpha chain.
Findings:
- The unstable Hb Sun Prairie variant showed instability comparable to Hb Bibba.
- Genetic analysis ruled out alpha-thalassemia deletions but identified a G to C mutation in codon 130 of the alpha 2-globin genes on both chromosomes.
- Homozygosity for this mutation (alpha 2(G>C)alpha 1/alpha 2(G>C)alpha 1) was proposed as the cause of the severe clinical presentation.
Implications:
- This study identifies a novel alpha-globin gene mutation responsible for a severe form of inherited hemolytic anemia.
- The findings highlight the importance of detailed molecular and genetic analysis in diagnosing complex hemoglobin disorders.
- Understanding the genetic basis of Hb Sun Prairie can aid in genetic counseling and potential therapeutic strategies for affected individuals.