Chapter 101. Hemolytic Anemias and Anemia Due to Acute Blood Loss (Part 6)

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Peripheral blood smear from patients with membrane-cytoskeleton abnormalities. A. Hereditary spherocytosis. B. Hereditary elliptocytosis, heterozygote. C. Elliptocytosis, with both alleles of the α-spectrin gene mutated. [From L Luzzatto, in J Gribben and D Pravan (eds): Molecular Hematology, 2d edition. Oxford, Blackwell, 2005; with permission.] Table 101-3 Inherited Diseases of the Red Cell MembraneCytoskeleton Gene Chromoso mal Location Protei n Produced s) Disease( with s Comment Certain Mutations (Inheritance) SPTA1 1q22-q23 αSpectrin HS (recessive) Rare. HE (dominant) of Mutations this gene account for about 65% More forms due of HE. severe may be to coexistence of an otherwise silent mutant allele. SPTB 14q23-q24.1 βSpectrin HS (dominant) Rare. HE (dominant) of Mutations this gene account ~30% of for HE, some including severe forms. ...

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Chapter 101. Hemolytic Anemias and Anemia Due to Acute Blood Loss (Part 6) Peripheral blood smear from patients with membrane-cytoskeleton abnormalities. A. Hereditary spherocytosis. B. Hereditary elliptocytosis, heterozygote. C. Elliptocytosis, with both alleles of the α-spectrin gene mutated. [From L Luzzatto, in J Gribben and D Pravan (eds): Molecular Hematology, 2d edition. Oxford, Blackwell, 2005; with permission.] Table 101-3 Inherited Diseases of the Red Cell Membrane- Cytoskeleton Gene Chromoso Protei Disease( Comment mal Location n Produced s) with s Certain Mutations
(Inheritance) SPTA1 1q22-q23 α- HS Rare. Spectrin (recessive) HE Mutations (dominant) of this gene account for about 65% of HE. More severe forms may be due to coexistence of an otherwise silent mutant allele. SPTB 14q23-q24.1 β- HS Rare. Spectrin (dominant) HE Mutations (dominant) of this gene
account for ~30% of HE, including some severe forms. ANK1 8p11.2 Ankyr HS May in (dominant) account for majority of HS. SLC4A 17q21 Band HS Mutations 1 3 (anion (dominant) of this gene may channel) account for ~25% of HS. Southea Polymorp st Asian hic mutation ovalocytosis (deletion of 9 (dominant) amino acids); clinically asymptomatic; protective against
Plasmodium falciparum. EPB41 1p33-p34.2 Band HE Mutations 4.1 (dominant) of this gene account for about 5% of HE, mostly with prominent morphology but no hemolysis in heterozygotes; severe hemolysis in homozygotes. EPB42 15q15-q21 Band HS Mutations 4.2 (recessive) of this gene account for about 3% of HS. RHAG 6p21.1-p11 Rhesu Chronic Very rare;
s antigen nonspherocytic associated with hemolytic total loss of all anemia Rh antigens. Note: HS, hereditary spherocytosis; HE, hereditary elliptocytosis.