| English |
| hb lepore (en.) |
  |
|
| Attestation |
3
|
| Part of speech |
Noun syntagm
|
| Grammatical label |
Countable
|
| Variant |
Lepore Hemoglobin
|
| Definition |
This is a mixup in the production of the non-a chain. There are at least three variants depending on the length of the mixed up segments: 1. Washington 2. Hollandia 3. Baltimore. Homozygous Hb Lepore: there is no normal beta or delta chain production. The clinical and laboratory findings are identical to Beta thalassemia major except on electrophoresis. Hemoglobin electrophoresis: Hgb F 80 to 90%, HbA absent HbA2 absent, Hb Lepore 10%. Heterozygous Hb Lepore: The clinical and laboratory findings are identical to beta thalassemia minor except on electrophoresis. Hemoglobin electrophoresis: HbA decreased, HgbA2 decreased, Hb Lepore 10%.
|
| Definition source |
Cao, A., et al. (1997). Management Protocol for the treatment of Thalassemia patients. Nicosia: Thalassemia International Federation. (INTEEN01)
|
| Context |
Homozygotes for Hb Lepore and compound heterozygotes for this mutation and severe b-thalassemia result in a markedly heterogeneous clinical picture ranging from a mild form of thalassemia major to thalassemia intermedia. The milder clinical picture resulting from the presence of Hb Lepore is related to the fact that the Lepore determinant is usually associated with higher HbF levels as compared to the severe b -thalassemia.
|
| Context source |
Cao, A., et al. (1994). ‘Genotype-phenoptype correlations in beta-thalassemias’. Blood Reviews 8(1):1-12. Review. (RISCEN85)
|
| Subject field |
Haemopoiesis
|
| Sub-field (level 1) |
Thalassemias
|
| Generic concept |
Disorders of the synthesis of d and b chains.
|
| Specific concept |
Heterozygous Hb Lepore, homozygous Hb Lepore
|
| Related concept |
Hemoglobin, globin chain, globin gene, Hb Bart´s, delta-beta-thalassemia, Hereditary Persistence of Fetal Hemoglobin
|
| it |
Hb Lepore (It.)
|
| Reliability code |
3
|
