Further evidence for a genetic basis of haemoglobin H disease from newborn offspring of patients
| Autor: | Malida Pornpatkul, Sa-nga Pootrakul, Supa Na-Nakorn, Prawase Wasi |
|---|---|
| Rok vydání: | 1969 |
| Předmět: |
Genetics
medicine.medical_specialty Multidisciplinary Hematology Offspring Chemistry Hemoglobins Abnormal Infant Newborn Blood Protein Electrophoresis Infant Newborn Diseases Beta-thalassaemia Endocrinology Internal medicine medicine Hemoglobinometry Hb h disease Humans Thalassemia Haemoglobin H disease |
| Zdroj: | Nature. 223(5201) |
| ISSN: | 0028-0836 |
| Popis: | HAEMOGLOBIN H disease is usually a mild to moderate, sometimes severe, thalassaemic disease, characterized by the presence of haemoglobin (Hb) H in addition to Hb A, and intraerythrocytic inclusion bodies1–3. Hb H is usually not detectable in either parent of the patients. The genetic basis of the disease was a subject for speculation until Hb H was shown to consist entirely of β-polypeptide chains4, with a molecular formula of β4, while Hb A is α2β2. It is now realized that Hb H (β4) is connected with α-thalassaemia5 which, by suppressing α-chain synthesis, leads to polymerization of the unconjugated β-chains to a tetrameric form. For the same reason Hb γ4 (Bart's) and Hb δ4 occur as a result of α-chain suppression6,7. Both haemoglobins can be detected in the people with Hb H disease. |
| Databáze: | OpenAIRE |
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