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- Hemoglobin_Lepore_syndrome abstract "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 and was first identified in an Italian family in 1958. There are three varieties of Hb Lepore, Washington (Hb Lepore Washington, AKA Hb Lepore Boston or Hb Lepore Washington-Boston), Baltimore (Hb Lepore Baltimore) and Hollandia (Hb Hollandia). All three varieties show similar electrophoretic and chromatographic properties and hematological findings bear close resemblance to those of the beta-thalassemia trait; a blood disorder that reduces the production of the iron-containing protein hemoglobin which carries oxygen to cells and which may cause anemia.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.Homozygous 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.".
- Hemoglobin_Lepore_syndrome thumbnail 1GZX_Haemoglobin.png?width=300.
- Hemoglobin_Lepore_syndrome wikiPageExternalLink handbk.PDF.
- Hemoglobin_Lepore_syndrome wikiPageID "26269206".
- Hemoglobin_Lepore_syndrome wikiPageRevisionID "606732977".
- Hemoglobin_Lepore_syndrome hasPhotoCollection Hemoglobin_Lepore_syndrome.
- Hemoglobin_Lepore_syndrome subject Category:Disorders_of_globin_and_globulin_proteins.
- Hemoglobin_Lepore_syndrome subject Category:Genetic_disorders_with_OMIM_but_no_gene.
- Hemoglobin_Lepore_syndrome subject Category:Hemoglobins.
- Hemoglobin_Lepore_syndrome subject Category:Red_blood_cell_disorders.
- Hemoglobin_Lepore_syndrome type Abstraction100002137.
- Hemoglobin_Lepore_syndrome type Attribute100024264.
- Hemoglobin_Lepore_syndrome type Condition113920835.
- Hemoglobin_Lepore_syndrome type Disease114070360.
- Hemoglobin_Lepore_syndrome type Disorder114052403.
- Hemoglobin_Lepore_syndrome type DisordersOfGlobinAndGlobulinProteins.
- Hemoglobin_Lepore_syndrome type GeneticDisease114151139.
- Hemoglobin_Lepore_syndrome type GeneticDisordersWithOMIMButNoGene.
- Hemoglobin_Lepore_syndrome type IllHealth114052046.
- Hemoglobin_Lepore_syndrome type Illness114061805.
- Hemoglobin_Lepore_syndrome type PathologicalState114051917.
- Hemoglobin_Lepore_syndrome type PhysicalCondition114034177.
- Hemoglobin_Lepore_syndrome type RedBloodCellDisorders.
- Hemoglobin_Lepore_syndrome type State100024720.
- Hemoglobin_Lepore_syndrome comment "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 and was first identified in an Italian family in 1958.".
- Hemoglobin_Lepore_syndrome label "Hemoglobin Lepore syndrome".
- Hemoglobin_Lepore_syndrome sameAs m.0b759qj.
- Hemoglobin_Lepore_syndrome sameAs Q5712491.
- Hemoglobin_Lepore_syndrome sameAs Q5712491.
- Hemoglobin_Lepore_syndrome sameAs Hemoglobin_Lepore_syndrome.
- Hemoglobin_Lepore_syndrome wasDerivedFrom Hemoglobin_Lepore_syndrome?oldid=606732977.
- Hemoglobin_Lepore_syndrome depiction 1GZX_Haemoglobin.png.
- Hemoglobin_Lepore_syndrome isPrimaryTopicOf Hemoglobin_Lepore_syndrome.