Acquired hemoglobin H disease associated with a myelodysplastic syndrome
Pérez Calvo, J.; González Fernández, F.A.; Santillana, T.; Alarcón, C.; Fariñas, M.; Sánchez, J.; Martínez Martínez, R.; Villegas, A.
Sangre 39(3): 211-213
1994
ISSN/ISBN: 0036-4355 PMID: 7524169 Document Number: 438999
Some patients found to have clonal panmyelopathies develop an acquired defect of haemoglobin synthesis clinically similar to haemoglobin H disease. A 58 year-old male diagnosed of simple refractory anaemia developed microcytosis and hypochromia. At the same time, his myelodysplastic syndrome became a refractory anaemia with excess of blasts. 33% of the red blood cells had "golf ball" inclusions after incubation with brilliant cresyl blue. Cellulose acetate electrophoresis revealed an haemoglobin H band. The globin chain synthesis alpha/beta ratio was 0.69. The molecular analysis demonstrated the integrity of both alpha genes in each chromosome. There were no familiar antecedent of haemoglobinopathy.