الفهرس 
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Abstract
Beta thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. In β-thalassemia major, the production of beta-globin chains is severely impaired because both beta-globin genes are mutated on chromosome II. This imbalance of globin-chain synthesis results in ineffective erythropoiesis and severe microcytic hypochromic anemia. The absence of a physiological iron excretion mechanism leads to accumulation of this metal in various body organs.
Thalassemia intermedia is a term used to define a group of patients with β-thalassemia in whom the clinical severity the disease is somewhere between the mild symptoms of β-thalassemia trait and the severe manifestations of β-thalassemia major. The diagnosis is a clinical one based on the patient maintaining a satisfactory hemoglobin level at least 6–7 g/dl at the time of diagnosis without the need for regular blood transfusions.
Patients with beta thalassemia may go through several complications as the transfusion– related infection like HBV and HCV. Iron overload complication are also noticed that includes endocrinopathies, heart and liver diseases, and chelation therapy complications.
The study included 50 β-thalassemia patients and 20 healthy children of matched age. They were collected from hematology and oncology unit, Pediatric department, Menoufia University Hospital.
group I: Included 30 β-thalassemia major, they were 13 males and 17 females. Their age ranged from 10-18 years.
group II: Included 20 β- thalassemia intermedia patients, they were 11 males and 9 females. Their age ranged from 10-18 years.
group III: Included 20 healthy children of matched age ranged from 10-18 years, sex (9males and 11 females), and socioeconomic standard, as a control group.
Each patient and control subjected to the following:
1- Complete history includes personal history, history of the present illness, and past history of blood transfusion.
2- Thorough clinical examinations include general, anthropometric and abdominal examination.
3- Laboratory investigation: routine and specific.
A- Routine investigations:
Complete blood count (CBC).
Liver function tests including ALT, AST.
Viral markers.
Stool analysis and urine analysis.
B- Special investigations:
Serum ferritin (ng / ml) by ELISA technique.
Cluster of differentiation 163 (CD163) by flowcytometry.
Echocardiography for assessment ESPAP, right ventricle diameter, pre ejection time, ejection time and pre ejection time/ejection time.
Results of our study showed:
•Regarding demographic data, patients with beta thalassemia have significantly higher rate of consanguinity than controls but there was no statistically significant difference among studied groups regarding their age and sex (P >0.05).
•Regarding anthropometric measurement, patients with beta thalassemia have highly significant lower mean weight, mean height and mean body mass index than controls but there was no statistically significant difference between two group of thalassemia regarding mean height and mean weight and mean BMI (P> 0.05).
•Regarding clinical data, patients with thalassemia major have highly significant higher rate of jaundice, splenectomy, hepatomegaly and regular blood transfusion course than patients with thalassemia intermedia.
Regarding hematological data of the studied groups:
•Patients with beta thalassemia major have significantly lower mean Hb and CD163 than patients with thalassemia intermedia.
•There was no statistically significant difference between thalassemia major and intermedia regarding serum ferritin, ALT, AST and viral marker.
Regarding echocardiographic parameters of studied groups:
•Patients with beta thalassemia have highly statistically significant higher EPASP, RVD, PET and PET/ET and lower PAT when compared with controls.
•Patients with thalassemia intermedia have higher EPASP and RVD and lower PAT than patients with thalassemia major.
•Patients with thalassemia intermedia have statistically significant higher PET and PET/ET than patients with thalassemia major.
•Patients with beta thalassemia have lower ET than and patients with thalassemia intermedia have lower ET than patients with thalassemia major.
The correlation studies revealed that:
In thalassemia major:
•CD163 has no significant correlation with Hb, serum ferritin, ALT and AST.
•CD163 has significant positive correlation with right ventricle diameter, significant negative correlation with ejection time and no significant correlation with EPASP, PAT, PET and PET/ET.
•No significant correlation between echo parameters and laboratory data including Hb and serum ferritin.
In thalassemia intermedia:
•CD163 has highly negative significant correlation with hemoglobin and no significant correlation to serum ferritin, ALT and AST.
•CD163 has no significant correlation with echo parameters (ESPAP, PET, ET, PET/ET and right ventricle diameter.
•PAT has negative significant correlation with serum ferritin.
•No significant correlation between echo parameter including (ESPAP, Right ventricle diameter, PAT, PET, ET and PET/ET) and laboratory data including hemoglobin and serum ferritin.
We concluded that pulmonary hypertension was common to develop in children with beta thalassemia and more common in children with beta thalassemia intermedia compared to children with beta thalassemia major.