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ROENTGENOGRAPHIC MANIFESTATIONS OF PYRUVATE KINASE DEFICIENCY HEMOLYTIC ANEMIA

MELVIN H. BECKER M.D., NANCY B. GENIESER M.D, SERGIO PIOMELLI M.D.1, DAVID DOVE M.D., and ROGELIO D. MENDOZA M.D.

1 Career Scientist of the New York City Health Research Council, Contract No. 1383.

Pyruvate kinase deficiency hemolytic anemia is an autosomal recessive disorder which manifests itself with variable degrees of severity. The patients are usually jaundiced at birth and subsequently are found to have hemolytic anemia which can be ameliorated by splenectomy.

Roentgenologically the changes are nonspecific and are those of any severe anemia which results in hypertrophy of the bone marrow. The skull changes resemble those described for thalassemia major and differ in that the antra and frontal sinuses are aerated in pyruvate kinase deficiency anemia.

As in other hemolytic disorders, gallstones tend to develop at an early age.


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