[Acquired hemoglobin H disease associated with a myelodysplastic syndrome].
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.
Pérez Calvo
J
J
Servicio de Hematología, Hospital Universitario San Carlos, Madrid.
González Fernández
F A
FA
Santillana
T
T
Alarcón
C
C
Fariñas
M
M
Sánchez
J
J
Martínez Martínez
R
R
Villegas
A
A
D000754:Anemia, Refractory, with Excess of Blasts / Q000097:blood / Q000150:complications* / Q000473:pathology; D001773:Blood Cells / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D004801:Eosine Yellowish-(YS); D005914:Globins / Q000096:biosynthesis / Q000235:genetics; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D008751:Methylene Blue; D008875:Middle Aged; D010078:Oxazines; D013194:Staining and Labeling; D017085:alpha-Thalassemia / Q000097:blood / Q000209:etiology* / Q000473:pathology
D010078:Oxazines; C006797:Brilliant Cresyl Blue; D005914:Globins; D008751:Methylene Blue; D004801:Eosine Yellowish-(YS)