Heinz Body Anemias

A number sign (#) is used with this entry because Heinz body anemia is observed with heterozygous mutations in either the alpha-globin (HBA1, 141800; HBA2, 141850) or the beta-globin (HBB; 141900) genes.

Description

This is a form of nonspherocytic hemolytic anemia of Dacie type I (in vitro autohemolysis is not corrected by added glucose). After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability.

Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies; 208530).

Clinical Features

Rees et al. (1996) reinvestigated the patient who was the subject of the first description of idiopathic Heinz body anemia (Cathie, 1952) and who was subsequently shown to have hemoglobin Bristol (141900.0030). The patient was a 5-year-old boy with anemia from birth and no obvious precipitating toxic agents. The child was first seen at age 16 months, when he was jaundiced, with a hemoglobin of 7 g/dl, punctate basophilia, and 37% reticulocytes. A diagnosis of congenital achloruric jaundice was made and the spleen removed. He received blood transfusions regularly until he was 15, when they were stopped with no adverse effects. At the time of the report by Rees et al. (1996), the patient was 47 years old and in good health. His steady-state hemoglobin was 7.5 g/dl. He had suffered one hemolytic crisis following food poisoning in 1991 but did not need a transfusion. He had 2 subarachnoid hemorrhages in his twenties, with no residual deficit. He had valvular heart disease following rheumatic fever at age 16. None of his relatives, including parents and 5 sibs, suffered from hemolysis or anemia. The 2 unrelated patients studied by Rees et al. (1996) were the Japanese patients of Ohba et al. (1985).

Molecular Genetics

Specific defects of the beta-globin gene have been demonstrated as the basis of Heinz body anemia associated with Hb Bruxelles (141900.0033), Hb Hammersmith (141900.0100), Hb Indianapolis (141900.0117), and Hb Tacoma (141900.0278). In addition to severe Heinz body anemia, Hb St. Louis (141900.0268) also causes methemoglobinemia.

Hb Toyama (141800.0152) is an example of a Heinz body anemia due to mutation in the HBA1 gene.

Hb Bibba (141850.0030) is an example of Heinz body anemia due to mutation in the HBA2 gene.