Cardiovascular Aspect of Beta-Thalassaemia

Abstract

Beta-thalassaemia major is a genetic blood disorder caused by the reduced synthesis of beta globin chain. The consequences of the resulting chronic anaemia are also common and include growth retardation, bone marrow expansion, extramedular hematopoiesis, splenomegaly, increased intestinal iron absorption, susceptibility to infections, and hypercoagulability. Transfusional iron overload can affect heart function by directly damaging tissue through iron deposition or via iron-mediated effects at other sites. Cardiac dysfunction is common in patients with thalassaemia and is the leading cause of mortality. The main cardiac abnormalities reported in patients with thalassaemia major (TM) and iron overload are left ventricular systolic and diastolic dysfunction, pulmonary hypertension, valvulopathies, arrhythmias and pericarditis. These cardiac abnormalities are a consequence of the general co-morbid conditions in thalassaemia but are closely related to concomitant endocrine deficiencies, hypercoagulability state and inflammatory milieu. Iron's toxicity within cells arises from its capacity to catalyse the production of reactive oxygen species that cause lipid peroxidation and organelle damage, which lead ultimately to cell death and fibrosis. With the introduction of new technologies such as cardiac magnetic resonance T2* , the early detection of cardiac iron overload and associated cardiac dysfunction is now possible, allowing time for reversal through iron chelation therapy.

Orodental Considerations in Thalassemia Patients

“…This hereditary disorder of metabolism can lead to organ damage and mortality [31,32], if left undiagnosed and untreated. Iron deposition in the parenchymal tissues of thalassemia patients can be observed within a year of the onset of regular blood transfusions [33]. Studies have shown that iron gets accumulated in the cardiac, endocrine, hepatic tissues and gingivae of thalassemia major patients [34,35].…”

Korelasi Kadar Ion Kalsium Serum dengan Dimensi, Fungsi Sistol dan Diastol Ventrikel Kiri pada Thalassemia Mayor dengan Hemosiderosis

“…18 Peningkatan EF juga dianggap sebagai tahap awal kardiomiopati, yaitu peningkatan EF >60% atau terdapat hipertensi arteri pulmonal ringan (HAP), regurgitasi mitral (MR), atau trikuspid (TR). 19 Gangguan fungsi diastol pada penyandang TM berbentuk gangguan restriktif, yaitu nilai E/A >1,5 dengan nilai DT <150 m/s 20 maka subjek penelitian kami terpenuhi pada 21 pasien, walaupun tidak berkorelasi dengan penurunan kadar ion kalsium. Hal tersebut mungkin disebabkan adanya mekanisme kompensasi pada anemia kronik yang mempertahankan fungsi diastol normal.…”

Effect of Iron Overload on Gonadotrophins and Organ Sex Steroids in Pubertal Thalassemia Patients

“…Certain communities in India, like Sindhis, Gujratis, Punjabis, and Bengalis, are more commonly affected with beta thalassemia, the incidence varying from 1 to 17% [3] Iron overload which is a common complication of thalassaemic syndromes could lead per se to the development of organ damage and increased mortality [4]. In these patients, iron deposition in parenchymal tissues starts within 1 year of starting the regular transfusions [5]. Blood transfusions are important for survival of these patients, but chronic transfusions inevitably lead to iron overload as humans cannot remove excess iron actively.…”