Rare Diseases Symptoms Automatic Extraction

β -thalassemia intermedia in Northern Iraq: a single center experience.

[alpha-thalassemia]

To investigate the molecular basis of β -thalassemia intermedia in Northern Iraq and evaluate its management practices, a total of 74 patients from 51 families were enrolled. The patients were clinically and hematologically reevaluated, and had their β-thalassemia mutations characterized, as well as the number of α-globin genes and Xmn I (G)γ-158 (C>T) polymorphism studied. Out of 14 β-thalassemia mutations identified, the four most common were IVS-I-6 (T>C) [33.3%], IVS-II-I (G>A) [21.1%], codon 82/83(-G)[10.1%], and codon 8 (-AA) [8.1%]. The most common contributing factors to the less severe phenotype of thalassemia intermedia were found to be the inheritance of mild β-thalassemia alleles and the Xmn I polymorphism, while concomitant α-thalassemia had a limited role. Several complications were documented including: pulmonary hypertension in 20.4%, diabetes mellitus in 1.4%, hypothyroidism in 2.9%, and heart failure in 2.7%, while no documented cases of venous thrombosis were found. Compared to their counterparts in several Mediterranean countries, it appears that our patients were much less frequently transfused and had a lower proportion of patients who were splenectomized, on iron chelation, or hydroxycarbamide therapy. Such practices require further scrutiny to ensure that a better level of care is provided and that growth retardation, skeletal changes, and other complications are prevented or reduced.

Diseases presenting "venous thrombosis" symptom

  • acute rheumatic fever
  • alpha-thalassemia
  • cohen syndrome
  • focal myositis
  • heparin-induced thrombocytopenia
  • pyomyositis
  • sneddon syndrome
  • thoracic outlet syndrome
  • waldenström macroglobulinemia

This symptom has already been validated