Clinicopathological and Radiological Study of Egyptian β-Thalassemia Intermedia and β-Thalassemia Major Patients: Relation to Complications and Response to Therapy

Abstract

The clinico epidemiological characteristics, frequency of complications, and response to various therapeutic modalities in 80 Egyptian β-thalassemia intermedia (β-TI) patients were compared with 70 β-thalassemia major (β-TM) patients. β-Thalassemia intermedia patients had a higher incidence of left atrium dilatation, right ventricular dilatation and pulmonary hypertension, whereas, β-TM patients showed a higher incidence of left ventricular (LV) dilatation, restrictive LV filling and impaired LV contractility, with an overall higher incidence of heart disease (p <0.001). Short stature, delayed puberty, osteoporosis, bone fractures, diabetes mellitus and viral hepatitis was frequently observed in β-TM patients compared with β-TI patients (p <0.05). Administration of hydroxyurea (HU) alone was associated with significant improvement in hematological parameters and quality of life for β-TI patients. In conclusion, the risk of complications still burdens the life of Egyptian thalassemia patients and their frequency varies between β-TI and β-TM. We provide evidence that calls for the use of HU in β-TI patients.

Growth differentiation factor-15 in children and adolescents with thalassemia intermedia: Relation to subclinical atherosclerosis and pulmonary vasculopathy

“…Reactivation or augmentation of HbF is a possible therapeutic approach for patients with β-TI, and is associated with decreased blood transfusion dependency and improved skeletal deformities and splenomegaly [59,60]. The lower levels of GDF among hydroxyurea treated TI patients compared to untreated counterparts in our study could be explained by the fact that hydroxyurea therapy is associated with suppression of ineffective erythropoiesis [61,62], a condition that causes high-level expression of GDF-15 [11].…”

Rationale and design of the Pan African Pulmonary hypertension Cohort (PAPUCO) study: implementing a contemporary registry on pulmonary hypertension in Africa

“…15 Haemolytic anaemia is a known risk factor for PH; a screening study of patients with sickle-cell disease (SCD) in Nigeria showed a PH prevalence of 25% 16 ; a study from Egypt indicates that patients with β-thalassaemia are at risk of PH. 17 Another study from Egypt found a PH prevalence of 9% in patients seropositive for schistosomal antibodies. Ahmed et al 18 from Sudan described 14 consecutive cases of PH with previously treated pulmonary TB and concluded that PH can even occur after resolution of TB, most likely due to persistent lung destruction.…”

“…PH with an RVSP>30 mm Hg was present in 4% of long-term survivors in a Zimbabwe cohort of vertically acquired HIV infection 15. Haemolytic anaemia is a known risk factor for PH; a screening study of patients with sickle-cell disease (SCD) in Nigeria showed a PH prevalence of 25%16; a study from Egypt indicates that patients with β-thalassaemia are at risk of PH 17. Another study from Egypt found a PH prevalence of 9% in patients seropositive for schistosomal antibodies.…”

Serum Ferritin;

“…1,2,3 This condition then lead to hormonal complications and iron overload, which are implicated in bone deformity and loss of bone mineral density (BMD). 6 The resultant outcome of overall bone related physiology could probably lead to the alteration and bone maturity among the children. 8 The gender distribution of the study population indicate the frequency of the male patients was high as compared the female i.e.…”