To determine the molecular characterization and disease-associated complications of beta-thalassemia intermedia (-TI) patients in Sulaymaniyah province, northeastern Iraq.
A total of 159 -TI) patients in Sulaymaniyah province, northeastern Iraq. -TI) patients in Sulaymaniyah province, northeastern Iraq.
Nineteen different -globin gene mutations arranged in 37 various genotypes were determined. The most frequent were IVS-II-I (G>A) (47.2%), followed by IVS-I-6 (T>C) (23.3%) and IVS-I-110 (G>A) (5%). Among disease-related morbidities documented, bone disease amounted to 53% (facial deformity and osteoporosis), followed by endocrinopathies 17.6% (growth retardation and subclinical hypothyroidism), cholelithiasis 13.8%, pulmonary hypertension 11.3%, and abnormal liver function test 7.5%, whereas venous thrombosis, extramedullary hemopoiesis, and leg ulcer were less frequently observed. Age ≥ 35 and female sex were risk factors for cholelithiasis, while age was an independent risk for hypothyroidism and female sex was associated with increased risk for osteoporosis. Mean serum ferritin of ≥1000 g/L was associated with an increased risk of osteoporosis, whereas chelation therapy was protective for a multitude of other complications. Transfusion, on the other hand, increased the risk of osteoporosis, yet it was protective for cholelithiasis and hypothyroidism. Moreover, splenectomy was protective for cholelithiasis, although it was an independent risk for hypothyroidism. Finally, hydroxyurea was associated with an increased risk of osteoporosis, while it was protective for cholelithiasis. -thalassemia mutation had contributed to 41.25 of families with a less severe -thalassemia phenotype in the northeastern part of Iraq, justifying the need to investigate the contribution of genetic modifiers in ameliorating disease severity. In addition, the substantial number of -TI patients developed disease-related morbidities, which necessitates the need for more appropriate clinical management with earlier intervention.-TI) patients in Sulaymaniyah province, northeastern Iraq. g/L was associated with an increased risk of osteoporosis, whereas chelation therapy was protective for a multitude of other complications. Transfusion, on the other hand, increased the risk of osteoporosis, yet it was protective for cholelithiasis and hypothyroidism. Moreover, splenectomy was protective for cholelithiasis, although it was an independent risk for hypothyroidism. Finally, hydroxyurea was associated with an increased risk of osteoporosis, while it was protective for cholelithiasis. -thalassemia mutation had contributed to 41.25 of families with a less severe -thalassemia phenotype in the northeastern part of Iraq, justifying the need to investigate the contribution of genetic modifiers in ameliorating disease severity. In addition, the substantial number of -TI patients developed disease-related morbidities, which necessitates the need for more appropriate clinical management with earlier intervention.-thalassemia mutation had contributed to 41.25 of families with a less severe -thalassemia phenotype in the northeastern part of Iraq, justifying the need to investigate the contribution of genetic modifiers in ameliorating disease severity. In addition, the substantial number of -TI patients developed disease-related morbidities, which necessitates the need for more appropriate clinical management with earlier intervention.-TI) patients in Sulaymaniyah province, northeastern Iraq. -TI) patients in Sulaymaniyah province, northeastern Iraq.

Copyright © 2020 Shaema Salih Amin et al.