الفهرس 
ThalassemiaOnly 14 pages are availabe for public view
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Abstract
T
halassemia is a severe genetic blood disorder caused by a mutation in the globin gene. Abnormal globin chains lead to the excessive destruction of red blood cells. It is the most common single gene disorder in the world. It is a multidimensional medical, social, and psychological problem.
NTDT is a spectrum of thalassemia that does not require regular lifelong transfusion for survival. This group of thalassemia may require occasional transfusions in special circumstances such as infection, pregnancy or growth retardation and may require more regular transfusions later in life due to complications or splenomegaly.
Iron overload is also one of the major complications in β-thalassemia. The condition is mainly a result of increased gastrointestinal absorption from ineffective erythropoiesis which leads to iron deposition in the liver. Measurement of liver iron concentration is a key parameter for the management of patients with β-thalassemia. Magnetic resonance imaging (MRI) has already demonstrated high accuracy to quantify liver iron content.
The aim of this study was correlation between LIC and ocular manifestations in thalassemic patients.
The study group included 60 patients from the pediatric hematology clinic in Ain Shams University Hospitals. All patients were subjected to full history taking, clinical assessment, ophthalmological examination (including visual acuity testing, slit lamp examination and fundus examination) and liver iron quantitative assessment by MRI. Lab investigations included CBC, serum ferritin, ALT, AST, TSB and DSB.
The study showed that elevated LIC was associated with increased rate of ocular morbidity, including visual acuity abnormalities and RPE changes, and abdominal findings (i.e., Hepatomegaly and/or splenomegaly).
Elevated LIC was also associated with increased duration of disease, chelator dosing, severity of anemia, frequency of transfusion, serum ferritin and liver enzymes. There was a highly significant correlation between LIC and disease duration denoting that the longer the duration of disease, the more liability to hepatic iron overload.
The study also clarified that the serum ferritin levels could be considered as a parameter to detect liver iron loading in patients with thalassemia.
There was a highly significant correlation between LIC and hemoglobin denoting that the lower the hemoglobin level, the more liability for hepatic iron overload.
There was a significant correlation between LIC and liver enzymes denoting that elevated ALT and AST may be due to hepatic iron overload rather than infections or any other causes. Therefore, in a thalassemic patient, hepatic MRI should be considered in unexplained elevation of ALT and/or AST.
LIC was positively correlated with frequency of transfusion declaring that the more frequent the transfusion, the more liability to develop hepatic iron overload. There was a highly significant correlation between LIC and hepatomegaly and/or splenomegaly.
There is a highly significant correlation between LIC and visual acuity where visual acuity is highly influenced by hepatic iron overload. LIC has a highly significant positive correlation with fundoscopic findings (i.e., RPE changes).