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Normocytic normochromic on heterozygous hb c

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Normocytic Normochromic on heterozygous Hb C. Additional tests used in diagnosis— Hb electrophoresis Biochemistry— alpha 2 Beta 2 (6Glu----- Lys), in which lysine is substituted for glutamatic acid in the 6 th position of the beta chain. Hemoglobin M— Cause of the anemia— caused by mutations in the alpha/beta gene. Has iron in the ferric state and unable to carry oxygen Appearance on peripheral smear— cyanotic Additional tests used in diagnosis— spectral absorption of hemolysate or hemoglobin electrophoresis Biochemistry-- Hemoglobin D— Cause of the anemia— inherited, found in india Appearance on peripheral smear— normochromic, normocytic???????? Additional tests used in diagnosis— Hb electorphoresis Biochemistry— alpha 2 beta 2 (121 Glu--- Gln) glycine is substituted for glutamic acid at the 121 st position in the Beta chain Hemoglobin E-- Cause of the anemia— inherited mild anemia found in south east asia Appearance on peripheral smear— microcytes and target cells Additional tests used in diagnosis— Hb electrophoresis Biochemistry— lysine is substituted for glutamic acid in the 26 th (alpha 2 beta 2 26 glu-- lys) Thalassemias- Cause of the anemia— inherited disorder caused by genetic alterations. Reduction in the rate of synthesis of one or more of the globin chains. Thal minor is heterozygous and mild anemia.Thal major is homozygous and severe, transfusion dependent. Appearance on peripheral smear— hypochromic and mycrocytic Additional tests used in diagnosis— pre screening for parents for the presence of thalassemia trait. Biochemistry— +
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Hereditary persistence of fetal hemoglobin- Cause of the anemia— continued synthesis of increased levels of Hb F in adult life. Appearance on peripheral smear— hypochromic, microcytic Additional tests used in diagnosis— doesn’t usually cause any problems Biochemistry— Lead Poisining Cause of the anemia— acquired, leading to sideroblastic anemia. Being exposed to lead causes lead poisining. It interferes with porphyrin synthesis. Appearance on peripheral smear— usually normocytic, normochromic. Chronic exposure will cause microcytic hypochromic cells Additional tests used in diagnosis— measurable in urine and protoporphryn is measurable in an extract of RBC’s. Biochemistry-- Define Hemoglobin Bart— has 4 gamma chains to carry oxygen. The body will compensate any way it can. Hemoglobin H— Only has one alpha chain. 8. Discuss hemoglobin electrophoresis and explain why two different pH’s are required. Hemoglobin electrophoresis is used bc some hemoglobins have the same electrophoretic mobility patterns, hemoglobins that exhibit an abnormal electrophoretic pattern in an alkaline pH may be electrophoresed at an acid pH for definitive separation. 9. Diagram the hemoglobin electrophoresis patterns for both pH’s used for the A, C, S, and F hemoglobins. See page 343
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11. Explain the principles of the manual and electronic reticulocyte count. 12. Define Reticulocyte Production Index— rate of red blood cell production Corrected Reticulocyte Count--
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