Compound heterozygosity for unstable hemoglobin Genova and beta(o)-thalassemia associated with early onset of thalassemia major syndrome.

Abstract

We described the case of an infant with compound heterozygozity for a b0-thalassemic mutation and Hemoglobin (Hb) Genova, an unstable Hb variant. He has required regular transfusions as early as the second month of life and since then, behaves like a thalassemia major patient. This association leads to the most severe clinical course involving an unstable variant, reported so far.

• Authors: Catherine Badens, Chantal Paolasso, Chantal Fossat, Henri Wajcman, Isabelle Thuret
• Journal: Haematologica (Haematologica) Vol. 90 Issue 1 Pg. ECR04 (Jan 2005) ISSN: 1592-8721 [Electronic] Italy
• PMID: 15653458 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Genova

Topics

• Blood Transfusion
• Genetic Variation
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• Infant
• Male
• Mutation
• Syndrome
• Time Factors
• beta-Thalassemia (genetics, therapy)