Congenital Inclusion Body Hemolytic Anemia Associated with Epilepsy and Disordered Pyridoxine Metabolism.

Formiminotransferase deficiency syndrome associated with megaloblastic anemia responsive to pyridoxine or folic acid.

Formiminotransferase deficiency syndrome1,2 was firstly discovered by us as a new inborn error of folate metabolism which was characterized by 1) mental retardation, 2) hyperfolic acidemia, and 3) an excessive urinary excretion of formiminoglutamic acid (FIGLU) following an oral dose of L-histidine. A definite diagnosis of this syndrome was established by demonstrating a defective activity of f...

Two Cases of Chronic Hemolytic Anemia Associated with Spherocytosis

Two cases of hemolytic anemia with spherocy­tosis were investigated. lnspite of chronic hemolysis tl::crc was no radiological changes in flat bones. Ma­nagement and entity of spherocytosis is discussed m detail in this paper. 

A family study of congenital X linked sideroblastic anaemia.

We report on the cytogenetic findings in a family study of pyridoxine responsive, X linked sideroblastic anaemia. An increase in the number of X chromosomes was observed in a small proportion of metaphases prepared from five female members, but these findings did not strictly correlate with the carrier status of the condition. No consistent cytogenetic abnormality could be identified or associa...

Hemoglobin Zurich. I. A new hemoglobin anomaly associated with acute hemolytic episodes with inclusion bodies after sulfonamide therapy.

Bij PAUL C. FRICK, WALTER H. Hirzic AND Ki us BETKE H EMOLYTIC SYNDROMES with the appearance of erythrocyte inclusion bodies (Heinz-Ehrlich bodies) after exposure to certain chemicals and drugs have been well documented in man and in animals.1’2 Some chemicals, like phenyihydrazine, induce hemolysis in all humans, while others (sulfonamides, primaquine, phenacetin, etc.) are effective only in c...

Congenital hemolytic disease associated with red cell inclusion bodies, abnormal pigment metabolism and an electrophoretic hemoglobin abnormality.