Name
X-LINKED SIDEROBLASTIC ANEMIA
DESCRIPTION
DETAIL
( AN ERYTHROPOIETIC PORPHYRIA )* BONE MARROW EXAM : SHOW HYPERCELLULARITY WITH A LEFT SHIFT & MEGALOBLASTIC ERYTHROPOISIS WITH ABNORMAL MATURATION, ERYTHROID ALA-SYNTHASE LEVELS ARE DECREASED , VARIETY OF PURSIAN BLUE STAINING SIDEROBLASTS ARE OBSERVED, * PERIPHERAL SMEAR - HYPOCHROMIC- MICROCYTIC ANEMIA, STRIKING ANISOCYTOSIS, POIKILOCYTOSIS & POLYCHROMASIA. WBC & PALTELETS ARE NORMAL * HAEMOGLOBIN LEVELS ARE LOW & MCV & MCHC - LOW * SERUM IRON LEVELS - VERY HIGH, MAY CAUSE HEMOSIDEROSIS * URINE & FECAL PORPHYRIN LEVELS - NORMAL * URINARY PORPHYRIN PRECURSORS LEVELS - NORMAL * DEFINITE DIAGNOSIS BY DEMONSTRATION OF MUTATIONS IN ERYTHROID ALA-SYNTHASE GENE
TYPENOTES
TT : PYRIDOXINE SUPPLEMENTATION FOR ANEMIA. UNRESPONSIVE PATIENTS MAY BE TRANSFUSION DEPENDENT & REQUIRE CHELATION THERAPY
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
SERUM IRON ( CHILDREN ), BONE MARROW ASPIRATION, COMPLETE BLOOD COUNT, SERUM IRON SATURATION ( SERUM TRANSFERRIN SATU. )