Regular transfusions of erythrocytes required for survival of these patients lead to inevitable iron overload, which is manifested, by elevated serum ferritin levels. When there isnt enough hemoglobin, the bodys red blood cells dont function properly and they last shorter periods of time, so there are fewer healthy red blood cells. During the nine decades following the first clinical description of thalassemia, there have been revolutionary changes. Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin the protein in red blood cells that carries oxygen. Pdf abstract thalassemias are genetic disorders inherited from a persons parents. Thalassemia major is more extensive and patient needs to blood transfusion, but thalassemia minor is slight. Laboratory diagnosis of thalassemia brancaleoni 2016. The term thalassemia is derived from the greek, thalassa sea and haima blood. Inherited haemoglobin disorders, including thalassaemia and sicklecell disease, are the most common monogenic diseases worldwide. Thalassemia, which is caused by a decrease in the production of.
Thalassemia major is an inherited form of hemolytic anemia, characterized by red blood cell hemoglobin production abnormalities. During the nine decades following the first clinical description of thalassemia, there have been. Beta thalassemia open access journals beta thalassemia is an inherited hemoglobin disorder resulting in chronic hemolytic anemia. Thalassemias occur most often among people of italian, greek, middle eastern, southern asian, and african descent. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Thalassemia major is characterized by a hypochromic anemia due to a defect in the. Thalassemia syndrome tangvarasittichai surapon chronic diseases research unit, department of medical technology, naresuan university, phitsanulok thailand 1. Providers perspectives on treating patients with thalassemia. The thalassemias are a group of anemias that result from inherited defects in the production of hemoglobin. Dermatological findings are frequent in egyptian children with thalassemia major.
It forms a close link between the clinical areas and the research units. Iron overload causes most of the associated mortality and morbidity and frequently involves the endocrine glands. The prevalence of alpha and beta thalassemia, as well as of hbe. In sardinia, for instance, the number of thalassemia major children born per year predicted on the basis of the carrier rate, assuming a random mating, shows a reduction from 1. The most common skin lesions in our patients were pruritus, scars, hyperpigmentation and xerosis. Recent data suggest that the survival of welltreated patients with thalassemia major is now similar to that of thalassemia intermedia. Free publisher full textpmc free full textpmc free pdf.
The approach to deal with the thalassemic problem is to prevent and control birth of new cases. Introduction thalassemia is an inherited autosomal recessive blood disorder. Individuals with thalassemia major usually present within the first two years of life with severe anemia, requiring regular red blood cell rbc. Growth and endocrine function in thalassemia major in. Pubmed journal articles for beta thalassemia were found in prime pubmed.
Patients with thalassemia major tm have a lower bone mineral density bmd and higher frequency of fracture than the general population 1,2. Iron overload associated endocrine dysfunction leading to. Hemoglobin is a protein that carries oxygen to the body. This is the most severe form of anemia, and the oxygen depletion in the body becomes apparent within the first 6 months of life. Thalassemic patients are at risk of micronutrient deficiency. These endocrine dysfunctions are important pathogeneses linking tm. There are two main types of thalassemia, alpha thalassemia and beta thalassemia. Trace elements and vitamins play a vital role in human body to perform its function properly.
Prime pubmed beta thalassemia journal articles from pubmed. For the more severe forms of thalassaemia, modern treatment gives a good outlook, but lifelong monitoring and treatment are needed. Yet, archeological evidence 2 and even dna from remains dating back many generations 3 have suggested that the disease is quite ancient. It is caused by variant or missing genes that affect how the body make haemoglobin. Other articles where thalassemia major is discussed. Thalassemia major is an inherited hemoglobin disorder characterized by chronic anemia and iron overload due to transfusion therapy and gastrointestinal absorption. Three clinical and hematological conditions of increasing severity are. Beta thalassemia trait and beta thalassemia disease.
Transfusionrelated iron overload could lead to endocrine dysfunction, such as hypogonadism, growth hormone gh deficiency, and hypothyroidism 3,4. The latter presumably represents a response to the need for greatly accelerated red cell. The most common treatment for thalassemia is blood transfusion which is necessary to provide the patients with healthy red blood cells containing normal hemoglobin. Ineffective bone marrow erythropoiesis and excessive red blood cell hemolysis together account for. People with thalassemia make less haemoglobin and fewer circulating red blood cells than. Similar results have been reported in cyprus angastiniotis and modell 1998. Thomas cooley of thalassemia in children of mediterranean origin 1. Thalassaemia thalassaemia is an inherited condition affecting the blood. Untreated thalassemia major eventuall y leads to death, usually by heart f ailure. There are different types, which vary from a mild condition with no symptoms, to a serious or lifethreatening condition. The thalassemia syndrome is classified according to which of the globin chains.
This leads to a reduction in the number and ability of the red blood cells to carry oxygen throughout the body and can cause sufferers to feel symptoms such as fatigue. This study estimated levels of vitamins a, c, e, b12, folic acid, total homocysteine thcy, and methylmalonic acid mma along with trace elements, zinc, copper, and selenium in betathalassemiamajor. Established in 1991, with more than 200 patients on active followup and over 800 patient visits every year, the center is one of the largest thalassemia programs in the country. Families in south punjab, pakistan kamran ishfaq1, muhammad shabbir2, salman bin naeem3, safdar hussain4 original prof2762 abstract objectives. By staying committed to longterm treatment, people with thalassemia can enjoy a full life. Affected infants fail to thrive and become progressively. People with thalassemia intermedia not as severe as major, but not as mild as trait may need blood transfusions sometimes, such as when they have an infection or an illness. Clinical presentation of thalassemia major usually occurs between 6 and 24 months of life, with severe microcyticnormocytic anemia, mild jaundice, and hepatosplenomegaly. Thalassemia is not only an important public health problem but also a socioeconomic problem of many countries in the region. Diagnosis by diagnosis by hematologic tests, hemoglobin electrophoresis, and dna analysis. It is now over 90 years since the first description by dr. Persons with beta thalassemia major require periodic lifelong blood transfusions to maintain hemoglobin levels higher than 9. Beta thalassemia major also called cooleys anemia is a serious illness.
Thalassemia intermedia is a heterogenous group with interplay of several genetic factors. The geographical distribution of alpha and betathalassemias differ markedly. Hbebetathalassemia and hbcbetathalassemia exhibit a great range in terms of diversity of phenotypes and spectrum of severity. Beta thalassemia disease can only happen when both parents have beta thalassemia trait. There are two primary types of thalassemia disease. Symptoms appear in the first two years of life and include paleness of the skin, poor appetite, irritability, and failure to grow.
Accepted by journal of nano and electronic physics. Beta thalassemia open access journals omics international. Thalassemia genetic and rare diseases information center. The thalassemias are among the most common genetic disorders worldwide, occurring more frequently in the mediterranean region, the indian subcontinent, southeast asia, and west africa. Some people with thalassemia usually with thalassemia major need regular blood transfusions because their body makes such low amounts of hemoglobin. Alphathalassemia being particularly prevalent in southeast asia and betathalassemia in the mediterranean basin. Thalassemia and abnormal hemoglobins are common genetic disorders in asia. Northern californias comprehensive thalassemia center at childrens hospital oakland, delivers quality care to thalassemia patients. This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. Pdf thalassemia are a group of inherited blood disorders caused by the decrease or. Thalassemias is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal. When both parents have beta thalassemia trait, there is a 25% or 1 in 4 chance in each pregnancy for the baby to have beta thalassemia disease. Impact of thalassemia major on patients 582 the professional medical journal. Types thalassemia major cooleys anemia thalassemia minor severe form of beta thalassemia presence of one normal gene and one with a presence of two mutation.
If left untreated, death usually results within a few years. Thalassemias are a major public health issue in many populations which many health. Thalassemia major, variably referred to as cooleys anemia and mediterranean anemia, thalassemia intermedia and thalassemia minor also called beta thalassemia carrier, beta thalassemia trait or heterozygous beta thalassemia. Related donor hct for sickle cell disease scd or thalassemia major can yield overall survival of 95% at 6 years a reducedtoxicity hct conditioning regimen using treosulfan can yield a 5year overall survival of 93% in thalassemia risk stratification based on liver size, liver fibrosis, and. Affected patients may require splenectomy for hypersplenism. Alpha thalassemia disease and beta thalassemia disease. Ismail, akm mahbub hasan, hossain uddin shekhar int j hematol oncol stem cell res. In the context of the migrant crisis, pediatricians will be confronted with the challenge of managing severe complicated.
Beta thalassemia is the most common monogenic hereditary hemoglobin disorder, which poses a major health burden to srilanka. Review open access orphanet journal of rare diseases. We performed a crosssectional study of 342 patients in the registry of the national institutes of healthsponsored thalassemia clinical research network. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Thalassemia major cooley anemia is characterized by severe anemia, enlargement of the spleen, and body deformities associated with expansion of the bone marrow. Recent research provides new data for clinical decisionmaking in patients with thalassemia.
It is essential to determine the reasons or genetic modifiers for the remarkable phenotypic heterogeneity and natural history of these disorders so that the most costeffective methods for their control and management can be established modifier genes are defined as inherited. Betathalassemia major clinical presentation of thalassemia major occurs between 6 and 24 months. Thalassemia major is characterized by severe anemia, and survival depends on regular blood transfusion, with. Thalassemia was first clinically described nearly a century ago and treatment of this. Major issues of care in thalassemia major children. Progressive deposition of iron leads to dysfunction and failure of the major organs.
Resistance exercise on blood glucose and lipids in prediabetic, betathalassemia major patients. A major limitation of this study was the small number of the study population. Of thalassemia major patients, 28 50% were boys and 28 50% were girls. We report the case of 2 syrian 10yearold twin girls who arrived to france with numerous and severe complications of. Thalassemia major, variably referred to as c ooleys anemia and mediterr anean anemia, thalassemia intermedia and thalassemia minor also called. Fiftysix of the patients were followed up with diagnoses of thalassemia major and 11 with thalassemia intermedia. Introduction thalassemia is an inherited disorder of autosomal recessive gene disorder caused by impaired synthesis of one or more globin chains. Thalassemia major, variably referred to as cooleys anemia and mediterranean anemia, thalassemia intermedia and thalassemia minor also called betathalassemia carrier, betathalassemia trait or heterozygous betathalassemia. This requires an accurate identification of the couple at high. Thalassemia is a blood disorder that is caused by dna mutations in cells that are responsible for producing haemoglobin. There is a 75% or 3 in 4 chance that the baby will not have this disease. Beta thalassemia specifically, it is characterized by a genetic deficiency in the synthesis of beta globin chains. Nutritional biomarkers in children and adolescents with.
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