Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Conjunctival vessels were examined with a slit-lamp and the abnormalities were graded in 77 patients with sickle cell diseases, including 48 with sickle cell anaemia, 17 with sickle cell beta (0)-thalassaemia and 12 with HbS/HbC disease. The study demonstrated the occurrence of similar conjunctival vessel abnormalities for the three sickle cell diseases which are, however, more severe in HbS homozygotes than in the two other genotypes. An increase of the severity of the vascular abnormalities with the increase of patient age was also observed for HbS homozygotes. The data suggest that the conjunctival lesions accumulate and increase in severity in a similar fashion as other tissue damages observed in sickle cell diseases.
 ...
PMID:Conjunctival vessel abnormalities in sickle cell diseases: the influence of age and genotype. 227 43

The iron overload is the most common cause of death among transfusion dependent subjects affected by thalassemia major and other congenital anemias. The lesions caused by iron overload are found especially in liver, endocrine glands and heart. Among the various drugs able to remove the iron excess from the organs, desferrioxamine (DF) remains the only one used. The Authors report their experience with this drug in beta-thalassemia major and in beta-thalassemia intermedia patients. The results demonstrate that the subcutaneous administration of DF (40 mg/kg/die) is able to take the patients with thalassemia major in iron negative balance since their third year of life. No important untoward effects are reported. Periodic check with slit lamp has revealed no ocular alteration in 35 subjects. In thalassemia intermedia there is also iron overload due to increased iron absorption. It is probable that these patients too can present the same alterations observed in transfusion dependent beta-thalassemia omozygotes. In order to prevent these lesions it will be necessary to reduce iron absorption since early childhood.
 ...
PMID:[Chelating therapy in beta-thalassemia]. 711 Oct 40