LP16444-9
Hemoglobin Lepore
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Description
Hemoglobin Lepore syndrome or Hb Lepore syndrome (Hb Lepore) is typically an asymptomatic hemoglobinopathy, which is caused by an autosomal recessive genetic mutation. The Hb Lepore variant, consisting of two normal alpha globin chains (HBA) and two deltabeta globin fusion chains which occurs due to a "crossover" between the delta (HBD) and beta globin (HBB) gene loci during meiosis.
The homozygous state for Hb Lepore is rare. Patients of Balkan descent tend to have the most severe presentation of symptoms including severe anemia during the first five years of life. They also presented with significant splenomegaly, hepatomegaly, and skeletal abnormalities identical to those of homozygous beta-thalassemia. The amount of Hb Lepore in the patients blood ranged from 8 to 30 %, the remainder being fetal hemoglobin (Hb F) which is present in minute quantities (typically<1 percent) in the red blood cells of adults. Known as F- cells they are present in a small proportion of overall RBCs.
Heterozygous Hb Lepore is similar to beta-thalassemia major, however the clinical course is variable. Patients with this condition typically present with severe anemia during the first two years of life. The heterozygote form is mildly anemic (Hb 11-13 g/dl) but presents with a significant hypochromia (deficiency of hemoglobin in the red blood cells) and microcytosis.
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Source: Wikipedia
, Wikipedia
Basic Part Properties
- Part Name
- Hemoglobin Lepore
- Part Display Name
- Hemoglobin Lepore
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- Hgb Lepore
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 血红蛋白 Lepore Synonyms: Hgb Lepore |
| es-ES | Spanish (Spain) | Hemoglobina Lepore |
| it-IT | Italian (Italy) | Emoglobina Lepore |
| tr-TR | Turkish (Turkey) | Hemoglobin Lepore |
| ru-RU | Russian (Russian Federation) | Гемоглобин Lepore |
| fr-BE | French (Belgium) | Hémoglobine Lepore Synonyms: Hb Lepore |
| fr-CA | French (Canada) | Hémoglobine Lepore |
| nl-NL | Dutch (Netherlands) | hemoglobine Lepore |
| pl-PL | Polish (Poland) | Hemoglobina Lepore |
| el-GR | Greek (Greece) | Αιμοσφαιρίνη Lepore Synonyms: Αιμοσφαιρίνη Lepore |
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