Rare Diseases Symptoms Automatic Extraction

Efficiency of recombinant erythropoietin administration in hemoglobinopathy H.

[alpha-thalassemia]

Alpha-thalassemia is widely spread in human population and one of the most common types of ╬▒-thalassemia is hemoglobinopathy H which develops with mild microcytic hypochromic anemia, hepatosplenomegaly and jaundice. The basic method of anemia correction is blood transfusion. However this method has crucial deficiencies. As it is known recombinant erythropoetin (rEPO) contributes to erythroid proliferation and could be used for anemia treatment. The aim of the study was to qualify efficiency of administration rEPO in complex therapy of hemaglobinopathy H. Study involved irregularly transfused 14 patients with hemoglobinopathy H (2 males and 12 females). Control group included 30 healthy persons. Recombinant erythropoietin (Eprex) administrated hypodermically 10,000 units 3 times a week during 6 months. Average hemoglobin level before treatment was 62 g/l. Responses to the rEPO treatment varied from 9 to 70 g/l, 9 (64%) of patients had a good response, showed an increase in hemoglobin level more than 20 g/l. In 4 patients (29%) had a moderate response (10-20 g/l), but only in 1 (7%) patient occurred poor response. Changing the parameters of erithrocyte indices, hemoglobin fractions, serum iron and serum ferritin level are not statistically significant. It can be concluded that the use of rEPO in complex therapy of hemaglobinopathy H, leads to increased levels of hemoglobin and consequently reducing the need for blood transfusions.

Diseases presenting "hepatosplenomegaly" symptom

  • alpha-thalassemia
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • gm1 gangliosidosis
  • homocystinuria without methylmalonic aciduria
  • neonatal adrenoleukodystrophy
  • oculocutaneous albinism
  • omenn syndrome
  • severe combined immunodeficiency
  • waldenstr├Âm macroglobulinemia
  • zellweger syndrome

This symptom has already been validated