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.

Autoimmune Myelofibrosis in Systemic Lupus Erythematosus Report of Two Cases and Review of the Literature.

Autoimmune myelofibrosis (AIMF) is a rare entity of steroid-responsive bone marrow fibrosis that accompanies a variety of autoimmune diseases, particularly systemic lupus erythematosus (SLE). Rarely it may occur in patients with autoimmune markers but no definable autoimmune disease (Primary-AIMF). We report the cases of two young women with SLE-associated AIMF (SLE-AIMF).

Variant morphology in multiple myeloma.

A 45-year-old man presented to the clinic with the chief complaints of low back pain, marked weight loss, and pallor of 2 months duration. He was found to have severe normocytic anemia with leukoerythroblastosis. Bone marrow aspirate resulted in a dry tap.

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).