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Peripheral smear Normocytic normochromic RBC Iron studies Serum ferritin (increase/normal) Serum iron,TIBC,transfrrin sat (decrease)
Sideroblastic anemia
Hereditary sideroblastic anemia Due to congenital enzyme defect Alpha delta amino levolonic synthetase Heme synthetase Primary acquired sideroblastic anemia Occur in either male or female Mainly in middle and old stage Due to somatic mutation of the erythroid progenitor cell Cause either defect in heme synthesis or defect in DNA synthesis Laboratory findings Peripheral smear Microcytic hypochromic RBC Iron studies TIBC (decrease/normal) Serum ferritin,serum iron,transfrrin sat (increase) Bone marrow Prussian blue Positive of normoblast with iron deposits in the mitochondria surrounding the nucleus.
Megaloblastic anemia
Distributed of DNA synthesis Erythroblast in the bone marrow Show a characteristics abnormality The maturation of nucleus is delayed relative to that of cytoplasm Causes: Vit. B12 deficiency (pernicious anemia) Folic acid deficiency Abnormality of vit. B12 or folate metabolism Inherited disorder of DNA synthesis Drug induce by drug synthesis Ovalamine.
Aplastic anemia Worst case of anemia Rare but fatal bone marrow failure Acquires or inherited 30% inherited 70% acquired Characteristics Pancytopenia- RBC WBC platelets (decrease) Reticulocytopenia .bone marrow hypocellularity Depletion of hematopoietic Acquired aplastic anemia a.. idiopathic aplastic anemia (unknown cause) 70% to 80% of aplastic anemia b..secondary aplastic anemia (cause can be inherited) Exposure to drug chemical radiation or infectious agent INHERITED APLASTIC ANEMIA ussualy present at an early age and may have associated congenital malfunction two type of inherited anemia fanconi anemia autosomal recessive chromosomes instability disorder characterize by aplastic anemia dyskeratosis congenita rare inherited bone marrow syndrome characterize mucocutaneus abnormalities Laboratory findings CBC pancytopenia Reticulocyte count (decrease) Peripheral smear Normocytic normochromic (no abnormal cell) Bone marrow smear Show hypoplasia IDA sideroblastic thalassemia (microcytic hypocromic) Megaloblastic anemia (macrocytic) B12 Aplastic anemia and anemia due to chromic inflammation (normocytic normal MCV)
Laboratory findings CBC Pancytopenia Hemoglobin and hematocrit (decrease) MCV (increase) >120fl MCH and RDW (increase) MCHC (normal) Absolute reticulocyte count (decrease) Chemistry analysis Lactose dehydrogenase (LDH) (increase) Total and indirect bilirubin (increase) Peripheral smear Oval macrocyte Poikilocytosis- dacryocyte fragments microspherocytes NRBC Howell-jolly bodies Basophilic stipplings Cabot rings Hyper segmented neutrophil 5 or more lobes
Thalassemia
Diverse of inherited disorder Cause by genetic alteration that reduce or preclude the synthesis of the globin chain of hemoglobin tetramer Predominant in Mediterranean, Africa and asian Cambodia Thailand Epidemic of thalassemia resistant to malaria Beta o total absence of beta chain synthesis No chain produce Beta + - 10% to 50% of normal chain is produce Beta ++ - small reduction in beta chain production nearly normal alpha/beta chain ratio Types of thalassemia Beta thalasemia The beta chain production is decrease Heterozygous beta thalassemia (thalassemiaminor) Cooley s trait (reitti greppi micheli disease) Characteristics Result when one of two genes that produce beta chain
Silent carrier (-a/aa) Deletion of one alpha globulin gene Leaving 3 functional alpha globulin gene No hematologic abnormalities are present Birth 1%-2%
Alpha thalassemia trait Homo and hetero (-a/-a) (--/aa) Birth 2%-10% hemoglobin bart s Adult hemoglobin A Hemoglobin H decrease (--/-a) Cause by the presence of only one gene producing alpha chain Birth 10%-40% Hb bart s Replace by hemoglobin H 30%-50% Remainder Hb F, Hb A2, Hb Bart, and Hb A Adult 70% Hb A
Hydrops fetalis (--/--) Absence of all alpha chain synthesis incomplete with life Birth 80%-90% Hb bart 5%-20% Hb Portland trace of Hemoglobin H Hereditary persistence of hemoglobin F (HPHF) Thallasemia with increase level of fetal hemoglobin Beta and delta chain and hemoglobin F increase with compensate Hemoglobin lepore Rare class of thalassemia cause by crossing over the beta and delta gene Hemoglobin S thalassemia Double heterozygous abnormality Abnormal gene for hemoglobin S and thalassemia are coinherited Types: Hb SS alpha thalassemia Hb CC alpha thalassemia Hb SC beta thalassemia
Homozygous beta (thalassemia (thalassemiamajor) Cooley anemia Mediterranean s anemia Target cell anemia Serious disorder of infancy and early childhood characterisrics by severe anemia Transfusion dependent anemia Intermediate beta thalassemia More severe anemia Not required regular transfusion Silent carrier state Asymptomatic Change of 1 of the 2 beta gene that result in no hematologic abnormalities Alpha thalassemia Absence or defect of one or more alpha chain gene Clinical syndrome of alpha thalassemia
Hemoglobin C thalassemia Beta thalassemia with inherited hemoglobin C Hemoglobin E thalassemia Co inherited of hemoglobin E and B thalassemia that result to a mark reduction of beta chain production
Intracorpuscular abnormality
Membrane defect
Hereditary stomacytosis
(hereditary hydrcytosis) Rare congenital anemia inherited as recessive autosomal trait Cause by increase of sodium and decrase in reb cell due to increase permeability of the membrane Laboratory findings OFT (increase) Reticulocyte (normal/increase) Peripheral smear 10%-50% red cell appearance as stomacytosis
Hereditary Spherocytosis
Most common type of hereditary hemolytic anemia in caucasia characterized as autosomal dominant trait Clinical findings Anemia Jaundice Spenomegaly Laboratory findings Oft (increase) Reticulocyte (increase) Peripheral smear Presence of microspherocyte (hallmark) CBC MCH MCV (normal) MCHC (increase) Urubilinogen(increase) Serum heptoglobin (decrease) Direct Coomb s test (negative)
Hereditary acanthocytosis
Cause by absence of beta lipoprotein Rare autosomal trait Associated with a beta lipoproteinemia condition Laboratory findings Peripheral smear Mostly RBC or shape in acanthocyte Serum cholesterol (very low) LDL VLDL and chylomicrons (ABSENT) Reticulocyte count (nomnal to slightly elevate)
Hereditary pyropoikilocytosis
Rare and severe congenital hemolytic anemia Inherited as recessive autosomal trait common in blacks Laboratory findings Peripheral smear Microcytosis, micropoikilocytosis and fragmentation of RBC
Porphyria
Disorder of impaired synthesis of heme with accumulation of porphyrins and itd precursor Many be acquired lead poisoning Disease and its missing enzyme Congenital erythropoietic porphyria (CEP) (uroporphyrinogen III, cosynthetase) Porphyria cuntanea tarda (PCT) (hepatic uroporphyrinogen decarboxylase) Acute intermittent porphyria (AIP) (Porphobilinogen deaminase) Heridetary coproporphyria (coproporphyria III oxidase) Erythropoietic protoporphyria (heme synthetase)