Glucose phosphate isomerase (GPI) Tadikonda: Characterization of a novel Pro340Ser mutation.

After a thirty-year lag, we serendipitously reestablished contact with a patient with glucose phosphate isomerase deficiency and hydrops fetalis first reported in 1987. We now provide a clinical update and provide results of mutation analysis in this patient, from Southern India. The patient now an adult female of 36 years of age has moderate anemia but requires no transfusions except with some intercurrent illnesses.

Acute splenic sequestration crisis in an adult with sickle beta-thalassemia.

Acute splenic sequestration crisis (ASSC) is a major cause of morbidity and mortality in children with sickle cell disease. Reports of ASSC in adults with sickle beta-thalassemia (S-beta(thal)) are rare and consist of isolated case reports comprising a total of seven patients, three of whom died during the crisis. We report a 22-year-old man with S-beta(thal) who developed ASSC 1 day after suffering multiple blunt trauma.

Acute splenic sequestration crisis in adults with hemoglobin S-C disease: a report of nine cases.

Acute splenic sequestration crisis (ASSC) is a potentially life-threatening complication and one of the leading causes of death in children with sickle cell disease. It is rarely reported in adults with hemoglobin S-C disease and its natural history in these patients has not been well studied. We describe here the clinicopathological features of ASSC in nine adults with hemoglobin S-C disease treated between 1972 and 2000 and followed for a mean period of 9 years (range 0-21 years).

Iron in sickle cell disease: a review why less is better.

Sickle cell anemia (SCA) is an inherited disorder of hemoglobin synthesis that is characterized by life-long severe hemolytic anemia, attacks of pain crisis, and chronic organ system damage. A third of the hemolysis in SCA is intravascular and the resulting urinary losses of iron may lead to iron deficiency. There is no evidence of iron overload in SCA and iron deficiency may be more common than suspected, especially in men.

Autoimmune hemolytic anemia in patients infected with human immunodeficiency virus-1.

Four men were diagnosed with human immunodeficiency virus infection (AIDS) and autoimmune hemolytic anemia (HIV-AIHA) during the years 1997-2000 at Cook County Hospital, Chicago. All patients presented with the acute onset of severe hemolytic anemia, fever, and splenomegaly. The direct and indirect antiglobulin tests were positive in all, and three patients had mixed warm and cold autoantibody hemolytic anemia.