4604-5
Hemoglobin Lepore [Presence] in Blood by Electrophoresis acid (pH 6.3)
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Part Description
LP16444-9 Hemoglobin Lepore
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
Fully-Specified Name
- Component
- Hemoglobin Lepore
- Property
- PrThr
- Time
- Pt
- System
- Bld
- Scale
- Ord
- Method
- Electrophoresis pH 6.3
Additional Names
- Long Common Name
- Hemoglobin Lepore [Presence] in Blood by Electrophoresis acid (pH 6.3)
- Short Name
- Hgb Lepore Bld Ql Elph Acid
- Display Name
- Hemoglobin Lepore Elph pH 6.3 Ql (Bld)
- Consumer Name Alpha Get Info
- Hemoglobin lepore, Blood
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 1.0
- Last Updated
- Version 2.56 (MIN)
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Observation
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-AT | German (Austria) | Synonyms: Hämoglobin Lepore Fraktion |
el-GR | Greek (Greece) | Αιμοσφαιρίνη Lepore: Synonyms: PrThr Αιμοσφαιρίνη Αιμοσφαιρίνη Lepore |
es-AR | Spanish (Argentina) | hemoglobima Lepore: |
es-ES | Spanish (Spain) | Hemoglobina Lepore: |
es-MX | Spanish (Mexico) | Lepore de hemoglobina: |
fr-CA | French (Canada) | Hémoglobine Lepore: |
fr-FR | French (France) | Hémoglobine Lepore: |
fr-BE | French (Belgium) | Hémoglobine Lepore: Synonyms: Hb Hb Lepore |
it-IT | Italian (Italy) | Emoglobina Lepore: Synonyms: Elettroforesi acida (pH 6,3) Ematologia (coagulazione) conta differenziale Presenza o Soglia Punto nel tempo (episodio) Sangue |
ko-KR | Korean (Korea, Republic Of) | 르포르 혈색소: |
nl-NL | Dutch (Netherlands) | hemoglobine Lepore: |
pl-PL | Polish (Poland) | Hemoglobina Lepore: |
pt-BR | Portuguese (Brazil) | Hemoglobina Lepore: Synonyms: ; |
tr-TR | Turkish (Turkey) | Hemoglobin Lepore: Synonyms: Mevcut |
zh-CN | Chinese (China) | 血红蛋白 Lepore: Synonyms: Hgb Lepore 依次型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
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