Thromboembolism in Beta-Thalassemia Disease

Abstract

Thalassemia disease is a common inherited hemolytic anemia frequently found in several parts of the world, especially in the Mediterranean and some Asian countries. Besides the complications of secondary hemochromatosis from regular red blood cell (RBC) transfusion and increased gastrointestinal absorption of iron, thromboembolism (TE) is one of the common long-term complications of beta-thalassemia disease, particularly in patients with non-transfusion-dependent thalassemia (NTDT), which is commonly seen after the second decade of life. The risk factors of TE in beta-thalassemia disease including exposure of phosphatidylserine of abnormal RBCs, increase of platelet activation and aggregation, elevation of endothelial microparticles and increased endothelial activation, decreased nitric oxide (NO) secondary to hemolysis, rise of platelet count and nucleated RBCs after splenectomy, organ dysfunction caused by hemochromatosis, and thrombophilia such as natural anticoagulant deficiencies leading to hypercoagulable state. The understanding of the pathophysiology would result in effective prevention of this complication of beta-thalassemia disease.

Portal Vein Thrombosis in Patients with β-Thalassemia

“…Thalassemia is an autosomal recessive disorder classified into two main categories: α-and β-thalassemia. It commonly presents as chronic hemolytic anemia [2]. β-Thalassemia major results from homozygous or compound heterozygous mutations.…”

“…α-Thalassemia occurs when one or more of the four α-globin genes are missing, damaged, or changed. β-Thalassemia occurs when both β-globin genes are affected [2,3].…”

“…Beta (β)-thalassemia disease is one of the common hereditary hemolytic anemias with high prevalence in the malarial belt areas including the Mediterranean, the Middle East, Transcaucasia, Africa, South and Southeast Asia, and China. It results from mutations on chromosomes 11 and 16 for cases of β-thalassemia and alpha (α)-thalassemia, respectively, with more than 150 different mutations [1,2]. It describes all the inherited genetic abnormalities that affect the synthesis of α-or β-globin chains and consequently normal erythropoiesis and oxygen-carrying capacity of blood.…”

Upper gastrointestinal bleeding in pregnancy: An unexpected cause

“…Esophageal varices secondary to chronic portal vein thrombosis as a thromboembolic event in a postsplenectomy beta thalassemia trait pregnant patient is a rare event. [ 1 2 ]…”

“…Thromboembolic complications in beta thalassemia along with the hyper dynamic state in pregnancy predisposes the patient in a perilous situation for potential variceal bleed, owing to the low levels of Protein C, Protein S, enhanced platelet consumptions, and endothelial activation. [ 1 2 4 5 ]…”