β° Thalassemia Trait in Sardinia

Galanello, Renzo; Melis, Marco; Ruggeri, R; Addis, Maria; Scalas, M T; Maccioni, Liliana; Furbetta, M; Angius, A; Tuveri, T; Cao, Antonio

doi:10.3109/03630267909069153

Cited by 32 publications

(13 citation statements)

References 21 publications

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“…No difference was found in the mean values of MCHC (p=0.486) between the three groups (figure 1). Galanello and colleagues showed that heterozygote thalassaemia is mainly characterised by reduced MCV and MCH 14. These findings confirm that these two indices have an essential role in differential diagnosis of β-thalassaemia traits from α, β-thalassaemia double heterozygotes.…”

Section: Discussionmentioning

confidence: 81%

Effects of α-thalassaemia mutations on the haematological parameters of β-thalassaemia carriers

et al. 2015

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Section: Discussionmentioning

confidence: 81%

Effects of α-thalassaemia mutations on the haematological parameters of β-thalassaemia carriers

et al. 2015

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“…Thalassemia intermedia is characterized by Hb level between 7 and 10 g/dl, MCV between 50 and 80 fl and MCH between 16 and 24 pg. Thalassemia minor is characterized by reduced MCV and MCH, with increased Hb A 2 level [29]. …”

Section: Diagnosismentioning

confidence: 99%

Beta-thalassemia

Galanello

Origa

2010

Orphanet J Rare Dis

1,194

988

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Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell (RBC) transfusions. Findings in untreated or poorly transfused individuals with thalassemia major, as seen in some developing countries, are growth retardation, pallor, jaundice, poor musculature, hepatosplenomegaly, leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow. Regular transfusion therapy leads to iron overload-related complications including endocrine complication (growth retardation, failure of sexual maturation, diabetes mellitus, and insufficiency of the parathyroid, thyroid, pituitary, and less commonly, adrenal glands), dilated myocardiopathy, liver fibrosis and cirrhosis). Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Main clinical features in these patients are hypertrophy of erythroid marrow with medullary and extramedullary hematopoiesis and its complications (osteoporosis, masses of erythropoietic tissue that primarily affect the spleen, liver, lymph nodes, chest and spine, and bone deformities and typical facial changes), gallstones, painful leg ulcers and increased predisposition to thrombosis. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta globin gene on chromosome 11, leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). Transmission is autosomal recessive; however, dominant mutations have also been reported. Diagnosis of thalassemia is based on hematologic and molecular genetic testing. Differential diagnosis is usually straightforward but may include genetic sideroblastic anemias, congenital dyserythropoietic anemias, and other conditions with high levels of HbF (such as juvenile myelomonocytic leukemia and aplastic anemia). Genetic counseling is recommended and prenatal diagnosis may be offered. Treatment of thalassemia major includes regular RBC transfusions, iron chelation and management of secondary complications of iron overload. In some circumstances, spleen removal may be required. Bone marrow transplantation remains the only definitive cure currently available. Individuals with thalassemia intermedia may require splenectomy, folic acid supplementation, treatment of extramedullary erythropoietic masses and leg ulcers, prevention and therapy of...

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“…Due to the improved survival, liver diseases related to HCV infection, including hepatocellular carcinoma (HCC), emerged after cardiac diseases as the second risk factor associated with mortality in thalassaemia . While in Italy, prevalence of thalassaemia picks to 11% in Sardinia, the disease is highly prevalent in the Mediterranean area . Currently, in European Countries the risk of acquiring HCV by blood transfusion is 1.5‐2 per 1 million donations, by contrast, the vast majority of patients who had received regular blood red cells transfusions before 1990 acquired HCV infection .…”

Section: Introductionmentioning

confidence: 99%