Autosomal recessive inheritance
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Thalassemia major

Thalassemia (American English) (or Thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy. The genetic defect results in synthesis of an abnormal hemoglobin molecule. The blood cells are vulnerable to mechanical injury and die easily. To survive, many people with thalassaemia need blood transfusions at regular intervals. more...

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The disease's geographical association with the Mediterranean sea was responsible for its naming: Thalassa is Greek for the sea. Thalassemia occurs in all populations and ethnic groups, however the prevalence differs among different populations.

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Thalassemia heart disease : a comparative evaluation of thalassemia major and thalassemia intermedia
Background: Heart disease represents the main determinant of survival in [beta]-thalassemia, but its particular features in the two clinical forms of ...
Improvement of cardiac function in thalassemia major treated with L-carnitine
El-Beshlawy A, Ragab L, Fattah AA, et al. Acta Haematol 2004;111:143-148. INTRODUCTION: Heart disease secondary to chronic anemia and hemosiderosis ...
Help your patient meet the challenges of β thalassemia major
This inherited disorder causes serious lifelong problems. Find out what they are and how you can help. Danny Caputo, 10 months old, is brought to the emergency department by his parents. His signs an
Pulmonary dysfunction in transfusion-dependent patients with thalassemia major
Pulmonary function tests were performed on 62 transfusion-dependent patients with thalassemia major, ranging in age from 8 to 33 years, and receiving chelation therapy with desferrioxamine or deferip
Thalassemia
Thalassemia is an inherited disorder that affects the production of hemoglobin and causes anemia. Hemoglobin is the substance in red blood cells that enables ...
Left ventricular remodeling, systolic function, and diastolic function in young adults with [beta]-thalassemia intermedia : a doppler echocardiography
Background: The aim of this study was to investigate the left ventricular (LV) remodeling and function in 24 asymptomatic young adults affected by [beta]-thalassemia ...
Blood transfusion and lung function in children with thalassemia major - Clinical Investigations
Patients with thalassemia major suffer from a qualitative defect in hemoglobin production, which causes early hemolysis, and therefore the need for repeated blood transfusions. The consequence of t
Regression of cardiac insufficiency after ambulatory intravenous deferoxamine in thalassemia major
A case of severe cardiac failure due to iron overload in a patient with [beta]-thalassemia major is reported. The patient was successfully treated with high-dose ambulatory intravenous deferoxamin

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