Syndromes thalassemia. Medical search. Frequent questions

One study shows luspatercept was helpful for patients with beta thalassemia, while the other focuses on myelodysplastic syndromes. (hematology.org)
Myelodysplastic syndromes, a group of conditions where too few blood cells are produced by the bone marrow. (europa.eu)
It does this by blocking a signalling pathway called Smad2/3 that slows down the maturation of red blood cells and is overactive in patients with beta thalassaemia and myelodysplastic syndromes. (europa.eu)
The main study involved 229 adults with myelodysplastic syndromes requiring regular blood transfusions. (europa.eu)
The most common side effects with Reblozyl in patients with myelodysplastic syndromes (which may affect more than 15 in 100 people) are tiredness, diarrhoea, weakness, nausea (feeling sick), dizziness, back pain and headache. (europa.eu)

This article will focus on beta thalassemia intermedia. (medscape.com)
In patients with beta thalassemia intermedia, anemia is present but individuals are not transfusion dependent. (medscape.com)
Thalassemia intermedia therapy is aimed not only at treating the anemia, but also at addressing iron overload and inhibiting the clinical consequences of ineffective erythropoiesis. (medscape.com)
The following are histologic images from patients with thalassemia intermedia. (medscape.com)
Peripheral blood film in thalassemia intermedia. (medscape.com)
Basophilic stippling in thalassemia intermedia. (medscape.com)
Nucleated red blood cell in thalassemia intermedia. (medscape.com)
Even without chronic transfusion, iron overload can develop in the presence of beta thalassemia intermedia consequent to increased iron absorption from the gut. (medscape.com)
[ 1 ] In beta thalassemia intermedia, hemoglobin analysis reveals elevated levels of HbF and HbA2. (medscape.com)
The diagnosis of beta thalassemia intermedia does not always require DNA-based genotyping, but such analysis may aid in recognizing complex thalassemias such as delta-beta and gamma-delta-delta thalassemia. (medscape.com)
[ 1 ] Genetic analysis may also help to differentiate thalassemia intermedia from thalassemia major. (medscape.com)
For example, the presence of IVSI‐5 homozygous with Xmn‐1 is a strong indicator of thalassemia intermedia, but genetic heterogeneity means that this method is not in routine use. (medscape.com)
Yathiraj PH, Singh A, Vidyasagar S, Varma M, Mamidipudi V. Excellent and durable response to radiotherapy in a rare case of spinal cord compression due to extra-medullary hematopoiesis in β-thalassemia intermedia: case report and clinicoradiological correlation. (medscape.com)
Evaluation of the Clinical and Laboratory Characteristics of Previously Followed-up Thalassemia Intermedia Patients to Provide Them Better Care in the Future. (medscape.com)
The primary forms of NTDT include β -thalassemia intermedia, hemoglobin E (HbE) β -thalassemia, and hemoglobin H disease [ 9 ]. (hindawi.com)

A 25-year-old female, diagnosed with hemoglobin E (HbE)-beta thalassemia at 4 years of age by genetic testing, requiring monthly packed red blood cell transfusion (transfusion dependent) had Xmn1 polymorphism +/-genotype. (jpgmonline.com)
Treatment with iron-chelating drugs such as deferoxamine reduces mortality in persons with sickle cell disease or β‐thalassemia who are transfusion dependent. (wikipedia.org)
Guideline] Taher A, Musallam K, Cappellini MD. Guidelines for the Management of Non Transfusion Dependent Thalassaemia (NTDT) . (medscape.com)
The pattern of iron accumulation and the predilection of iron to target organs in NTDT is markedly different from transfusion-dependent thalassemia (TDT). (hindawi.com)
DEFERASIROX SANDOZ is also used to treat patients who have iron overload associated with their thalassemia syndromes, but who are not transfusion dependent. (mydr.com.au)
In patients with non-transfusion-dependent thalassemia syndromes, iron overload may develop over time due to increased absorption of dietary iron in response to low blood cell counts. (mydr.com.au)

People with alpha-thalassemia are at an increased risk of developing Alpha-thalassemia-myelodysplastic syndrome (AT-MDS). (rarediseaseshealthcenter.com)

Alpha-thalassemia-myelodysplastic syndrome (AT-MDS) is a rare genetic disorder caused by a mutation in the alpha-globin gene. (rarediseaseshealthcenter.com)
Alpha-thalassemia-myelodysplastic syndrome (AT-MDS) is a rare genetic disorder caused by a mutation in the HBA1 or HBA2 genes, which are responsible for producing the alpha globin protein. (rarediseaseshealthcenter.com)
Thalassemia is diagnostically confirmed via hemoglobin analysis and genetic testing. (medscape.com)
Beta thalassaemia, a genetic condition in which patients cannot make enough beta globin, a component of haemoglobin (the protein in red blood cells that carries oxygen around the body). (europa.eu)
2 Clinical genetic data accumulated over the last 30 years indicate that a natural reduction in α-globin chain output by 25-50%, resulting from co-inherited α-thalassemia, ameliorates the disease phenotype in patients with β-thalassemia. (haematologica.org)
For example, Down syndrome (sometimes referred to as ' Down's syndrome ') or trisomy 21 is a common genetic disorder that occurs when a person has three copies of chromosome 21. (medicinenet.com)
Study the HBS1L-MYB (rs4895441 and rs9376090) genetic polymorphisms in Egyptian patients with β -thalassemia major and sickle cell disease and its relation to Hb F and severity of the disease. (scirp.org)
hemoglobinopathies (e.g., sickle cell disease) and thalassemias are some of the most common human genetic diseases worldwide. (cshlpress.com)
However, in persons with West syndrome or hydrocephalus, it might be impossible to unravel whether CVI is caused by the seizure disorder or increased intracranial pressure or by the underlying disorder (that in itself can be acquired or genetic). (medscape.com)
In 66 patients (21%) a genetic diagnosis was obtained, of which 38 (12%) had other possible risk factor (acquired, preterm birth, West syndrome or hydrocephalus), making differentiation between acquired and genetic not possible. (medscape.com)
CVI was identified for the first time in several genetic syndromes, such as ATR-X, Mowat-Wilson, and Pitt Hopkins syndrome. (medscape.com)
We conclude that CVI can be part of a genetic syndrome and that abnormal ocular findings are present more frequently in acquired forms of CVI. (medscape.com)

The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage. (ox.ac.uk)
It has previously been suggested that the non-deletion form of the alpha thalassaemia/mental retardation syndrome may be an X linked disorder. (ox.ac.uk)
Some haemoglobinopathy genes ( alpha-thal, beta-thal and HbS ) cause alpha-thalassaemia, beta-thalassaemia and sickle-cell anaemia, respectively, but others ( HbE and HbC ) cause severe clinical manifestations of the disease only when combined with one of the former genes. (who.int)
Severe alpha-thalassaemia is common in south-east Asia, and sickle-cell anaemia predominates in Africa. (who.int)

Phase II data in patients with beta-thalassemia Luspatercept increased haemoglobin levels, reduced transfusion burden and improved measures of iron overload and also two out of two patients who presented with persistent leg ulcers, a complication of beta-thalassemia, experienced rapid healing. (shu.edu)
Detection of early cardiac dysfunction in patient with thalassemia and chronic iron overload. (paediatricaindonesiana.org)
As opposed to thalassemia major, where transfusional induced iron overload is targeted towards the reticuloendothelial system and parenchyma, iron is amassed in patients with NTDT that differ, primarily occurs in hepatocytes [ 10 - 13 ]. (hindawi.com)

A number sign (#) is used with this entry because X-linked alpha-thalassemia/mental retardation syndrome is caused by mutation in the ATRX gene (300032) on Xq21. (findzebra.com)
Porteous and Burn (1990) described a 6-year-old boy who had a maternal uncle with an X-linked mental retardation syndrome, and suggested that their case resembled 2 brothers previously thought to have an atypical form of the Coffin-Lowry syndrome (303600) (illustrated in Smith's Recognizable Patterns of Human Malformation, Jones, 1988). (findzebra.com)

Two experimental drugs, luspatercept and sotatercept, have shown to be active in myelodysplastic syndrome (MDS), a type of cancer in which the bone marrow does not make enough healthy blood cells and there are abnormal (blast) cells in the blood and/or bone marrow. (shu.edu)
Myelodysplastic syndrome (MDS) refers to a group of bone marrow disorders that interfere with the healthy production of blood cells. (healthline.com)

Patients who carry the trait are often asymptomatic and continue to live a normal life, while β -thalassemia major patients suffer from many complications that may be ameliorated due to lifelong transfusions. (hindawi.com)

Secondary moyamoya phenomenon or moyamoya syndrome (MMS) occurs in a wide range of clinical scenarios including prothrombotic states such as sickle cell anemia, but the association with other hemoglobinopathies is less frequently observed. (jpgmonline.com)
Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment. (bvsalud.org)
We conducted a health technology assessment to evaluate the safety , effectiveness , and cost - effectiveness of carrier screening programs for cystic fibrosis (CF), fragile X syndrome (FXS), hemoglobinopathies and thalassemia , and spinal muscular atrophy (SMA) in people who are considering a pregnancy or who are pregnant. (bvsalud.org)
Carrier screening for CF, hemoglobinopathies and thalassemia , FXS, and SMA likely results in the identification of couples with an increased chance of having an affected pregnancy (GRADE Moderate). (bvsalud.org)
Electrophoresis confirms the diagnosis with the presence of homozygous HbS and can also document other hemoglobinopathies (eg, HbSC, HbS-beta+ thalassemia). (medscape.com)
Hemoglobinopathies - thalassemia, sickle cell anemia. (apollohospitals.com)

Acquired hemochromatosis is common in patients with certain types of chronic anemia (e.g. thalassemia and myelodysplastic syndrome) who require many blood transfusions, which can greatly increase the amount of iron in the body. (wikipedia.org)
Study results found in thalassemia-including negative Coombs testing, low haptoglobin, elevated lactate dehydrogenase, and elevated indirect bilirubin-are also derived in nonimmune hemolytic anemia. (medscape.com)
Thalassemia is the world's most common form of inherited anemia, and in economically undeveloped countries still accounts for tens of thousands of premature deaths every year. (haematologica.org)
1 The accumulation of free excess α-globin chains in red blood cells and their precursors, as a result of the decreased production of β-globin, is believed to be the main pathophysiological mechanism leading to hemolytic anemia and ineffective erythropoiesis in β-thalassemia. (haematologica.org)
β-thalassemia is characterized by chronic anemia and iron excess due to blood transfusion and increased gastrointestinal absorption [3]. (scirp.org)
Thalassemia is an entity involving a collection of inherited diseases caused by defective or absent hemoglobin chain synthesis leading to anemia due to ineffective erythropoiesis. (hindawi.com)

see alpha-thalassemias, 141800) and mental retardation in 3 unrelated patients of northern European descent. (findzebra.com)
Chronic use of deferoxamine may increase the risk of hearing loss in patients with thalassemia major. (wikipedia.org)
Prompt evaluation for paraspinal extramedullary hematopoietic pseudotumors should conducted, via spinal magnetic resonance imaging (MRI), in patients with beta thalassemia in whom the symptoms and signs of spinal cord compression are present. (medscape.com)
We compared the diagnostic accuracy of electrocardiographic (ECG) criteria for left ventricular hypertrophy (LVH) in 119 randomly selected from 400 patients with thalassemia major treated at the Department of Child Health, Medical School, University of Indonesia, Jakarta. (paediatricaindonesiana.org)
We describe eight patients who have alpha thalassemia which cannot be accounted for by the Mendelian inheritance of abnormal alpha globin genes. (ox.ac.uk)
The main study involved 336 patients with beta thalassaemia requiring regular blood transfusions. (europa.eu)
The most common side effects of Reblozyl in patients with beta thalassaemia requiring transfusion (which may affect more than 15 in 100 people) are headache, bone pain and joint pain. (europa.eu)
A comparison of Egyptian β-thalassemia patients with their healthy peers revealed that the former reported lower growth parameters, lower physical, mental, schoolwork, and overall quality of life scores [4]. (scirp.org)
Patients with thalassaemia need regular transfusions of red blood cells (once or twice monthly) in order to maintain a mean haemoglobin concentration of about 9.0-10.5 g/dl. (who.int)
The term Nontransfusion dependent thalassaemia (NTDT) was suggested to describe patients who had clinical manifestations that are too severe to be termed minor yet too mild to be termed major. (hindawi.com)
Oxidative damage by reactive oxygen species (generated by free globin chains and labile plasma iron) is believed to be one of the main contributors to cell injury, tissue damage, and hypercoagulability in patients with thalassemia. (hindawi.com)
Nontransfusion-dependent thalassemia (NTDT), as its name implies, is a term coined to describe those patients that do not require lifelong transfusions who instead may need emergent transfusions for specific clinical settings [ 8 ]. (hindawi.com)
patients are -thalassaemia and the absence of a single referred from all areas of Egypt. (who.int)
One hundred -thalassaemia carriers, The most reliable methods for diagnosis who were parents of known -thalassaemia of thalassaemia trait include quantitative patients, were enrolled in Group 4 as con- determination of haemoglobin A2 (HbA2), trols. (who.int)
These methods are accurate but follow-up appointments with their children too expensive for initial mass screening (thalassaemia patients). (who.int)
Idursulfase (Elaprase) developed by TKT Therapeutics, now sponsored by Takeda, is an FDA-approved ERT for Hunter syndrome and has shown to improve the walking abilities of the patients. (delveinsight.com)
The history and physical findings in patients with alpha thalassemia vary according to the number of alpha-globin chains deleted. (medscape.com)
Some patients may also suffer hydrops fetalis syndrome in utero. (medscape.com)
West syndrome and/or hydrocephalus was identified in 21 patients (7%), and in 17 patients (6%) both an acquired cause and West and/or hydrocephalus was present. (medscape.com)

1981), with mental retardation and alpha-thalassemia without molecular abnormalities of the alpha-globin gene complex on chromosome 16p. (findzebra.com)
Initial analysis of the alpha globin gene complex (which maps to chromosome band 16p13.3), demonstrated that the alpha thalassemia results from failure of the patient to inherit an alpha globin allele from one of the parents. (ox.ac.uk)
β-thalassemia results from numerous mutations or rarely deletions of the β globin gene on chromosome 11. (scirp.org)

Hb F is a predominant modulator for the severity of β -thalassemia major & sickle cell disease. (scirp.org)
they include thalassemia syndromes, sickle cell disease & globin chain variants [1]. (scirp.org)
Globally, the percentage of carriers of thalassaemia is greater than that of carriers of sickle-cell anaemia, but because of the higher frequency of the sickle-cell gene in certain regions, the number of affected births is higher than with thalassaemia. (who.int)
ABSTRACT -thalassaemia major and sickle-cell disease are important health problems in Iraq. (who.int)
44 (3.7%) were found to be carriers of -thalassaemia, 14 (1.2%) of the sickle-cell gene and 1 (0.1%) of -thalassaemia. (who.int)
Documentation of SCD genotype (HbSS, HbSß0-thalassemia or other sickle cell syndrome variants) based on prior history of laboratory testing. (who.int)

index has been used as a preliminary indica- tion of thalassaemia trait [7]. (who.int)
Individuals with alpha thalassemia trait (-α/-α or --/αα) are asymptomatic, with a normal CBC. (medscape.com)
Alpha thalassemia trait tends to be milder in this population. (medscape.com)
In Asia, the cis deletion ( --/αα) is common, and subpopulations exhibit more dramatic features of thalassemia trait. (medscape.com)

Abnormal expression of other genes, which have not been identified, probably causes developmental delay, distinctive facial features, and the other signs and symptoms of alpha thalassemia X-linked intellectual disability syndrome. (medlineplus.gov)

In Egypt, -thalassaemia is the most mine the carrier rate of -thalassaemia in common genetically-determined, chronic, Egypt, and to determine the most economic haemolytic anaemia. (who.int)

1991) described 4 brothers with this syndrome in whom the diagnosis was first suspected because of their characteristic clinical features and was confirmed in each case by the demonstration of Hb H inclusions in a proportion of their red blood cells. (findzebra.com)
We describe four brothers with this syndrome in whom the diagnosis was first suspected because of their characteristic clinical features, although these varied somewhat from one sib to another. (ox.ac.uk)

With respect to its activity in beta-thalassemia, the mechanism by which luspatercept promotes erythropoiesis is not understood. (shu.edu)

1991) suggested that this condition be called 'X-linked alpha-thalassemia/mental retardation' (ATR-X) to distinguish it from the deletion form. (findzebra.com)

Reduced activity of the HBA1 and HBA2 genes causes alpha thalassemia. (medlineplus.gov)
1. Alpha-thalassemia: Alpha-thalassemia is caused by mutations in the HBA1 and HBA2 genes, which are responsible for producing the alpha globin protein. (rarediseaseshealthcenter.com)
carries the -thalassaemia genes [1]. (who.int)
Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions? (bmj.com)

Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. (medlineplus.gov)
Most affected individuals have mild signs of a blood disorder called alpha thalassemia. (medlineplus.gov)
The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital abnormalities, and alpha-thalassemia. (ox.ac.uk)
Beta- thalassaemia is the most common haemoglobin disorder in the Mediterranean basin, the Middle East and Asia. (who.int)
In Egypt, no definite national screening mon single-gene disorder worldwide: about programme has yet been developed for 3% of the world population (150 million) detection of -thalassaemia carriers [8]. (who.int)
Thalassaemia (an inherited disorder that affects the production of haemoglobin). (thewomens.org.au)
Occurring in approximately 1 in 100,000 to 1 in 170,000 male births , Hunter Syndrome, is an X-linked disorder, of carbohydrate metabolism that occurs almost exclusively in males, with females as the carriers of the diseases. (delveinsight.com)

The thalassemias are a group of inherited disorders in which globin chain production is reduced or absent. (medscape.com)
Beta thalassemia results from beta-globin gene mutations that impair beta-globin chain synthesis. (medscape.com)
The intensity of β-thalassemia may be mitigated by the production of Hb F as it may alter the imbalance of the α/β globin chain [5]. (scirp.org)

HbSβ+-thalassemia (heterozygous for hemoglobin S and reduced amounts of β-globin, usually milder severity). (cdc.gov)

In persons with beta thalassemia, there is reduced or absent production of beta globin chains. (shu.edu)

Alpha thalassemia X-linked intellectual disability syndrome results from mutations in the ATRX gene. (medlineplus.gov)
Therefore, females who carry a single mutated ATRX gene almost never have signs of alpha thalassemia X-linked intellectual disability syndrome. (medlineplus.gov)
The X-linked mental retardation-hypotonic facies syndrome (309580) is also caused by mutation in the ATRX gene. (findzebra.com)
OTL-201 is under development for the treatment of mucopolysaccharidosis-IIIA (Sanfilippo Syndrome Type A). The therapeutic candidate is developed based on ex-vivo lentiviral gene therapy. (pharmaceutical-technology.com)

It is concluded that ECG criteria for LVH has a low sensitivity and hjgh specificity in detecting increased left ventricular mass in children with thalassemia major. (paediatricaindonesiana.org)
4. Kaye SB, Owen M. Cardiac arrhythmias in thalassemia major: Evaluation of chelation treatment using ambulatocy monitoring. (paediatricaindonesiana.org)
5. Koren A, Garty L. Right ventricular cardiac dysfunction in beta thalassemia major. (paediatricaindonesiana.org)
However, in β -thalassemia major, no significant association was detected. (scirp.org)
The rate of iron loading is significantly different in thalassemia major ranging between 0.30 and 0.60 mg/kg/day versus 0.01 mg/kg/day in NTDT [ 14 ]. (hindawi.com)
The partici- the number of new thalassaemia major pants comprised 1000 school-age children births, there will be a cumulative increase in from different geographical areas, 40% numbers requiring treatment [3]. (who.int)
The major treatment option in Hunter Syndrome Market is Enzyme Replacement Therapy (ERT). (delveinsight.com)
A total of 3 couples (i.e. 5/1000) were at risk of having a child with -thalassaemia major, and the estimated number of affected children with a major haemoglobinopathy was 39 per year. (who.int)

However, beta thalassemia may still exist when the HbA2 level is normal, with such concentrations dropping into the normal range in the presence of conditions such as concomitant iron deficiency and delta-chain mutations. (medscape.com)
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). (ox.ac.uk)
In some south-east Asian countries up to 40% of the population may carry significant haemoglobin mutations, resulting in increased rates of infants born with thalassaemia. (who.int)

The initial workup for a patient with suspected thalassemia should include a complete blood count (CBC), review of the blood smear, and iron studies. (medscape.com)

The molecular genetics of Alport syndrome: report of two workshops. (bmj.com)

Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. (medlineplus.gov)
Almost everyone with alpha thalassemia X-linked intellectual disability syndrome has distinctive facial features, including widely spaced eyes, a small nose with upturned nostrils, and low-set ears. (medlineplus.gov)
Alpha thalassemia X-linked intellectual disability syndrome appears to be a rare condition, although its exact prevalence is unknown. (medlineplus.gov)

Polycystic kidney disease (PKD) and Alport syndrome (AS) are serious inherited disorders associated with renal disease, and thalassemia is a hereditary blood disease with a high prevalence in south China. (silverchair.com)

Thalassemias are inherited blood disorders. (medlineplus.gov)

The multi-disciplinary approach to manage Hunter Syndrome, in a way, becomes imperative due to the progressive nature of the disease and significant clinical heterogeneity. (delveinsight.com)

The degree of red blood cell hypochromia and Hb H levels, which varied from 0.7 to 6.7%, were milder than usually found in alpha-thalassemia. (findzebra.com)

What are the symptoms of Alpha-thalassemia-myelodysplastic syndrome? (rarediseaseshealthcenter.com)
However, the therapy is suitable for advanced or severe cases of Hunter Syndrome, and also has its clinical limitations in the form of inability to cross the blood-brain barrier (BBB), thus unable to alleviate neurological symptoms. (delveinsight.com)

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. (ox.ac.uk)

According to the WHO, the carrier rate of β -thalassemia is around 1.5% of the world population. (hindawi.com)

Anatomy6

Organisms1

Diseases66

Chemicals and Drugs24

Analytical, Diagnostic and Therapeutic Techniques and Equipment22

Psychiatry and Psychology3

Phenomena and Processes17

Disciplines and Occupations1

Information Science3

Named Groups1

Health Care6

Geographicals6

Myelodysplastic syndromes5

Intermedia15

Transfusion dependent6

Developing Alpha-thalassemia-myelodysplastic syndrome1

Genetic12

Alpha thalassaemia4

Iron overload3

Mental retardation syndrome2

Bone marrow2

Complications1

Hemoglobinopathies6

Anemia6

Patients19

Chromosome3

Sickle-cell6

Trait4

Abnormal1

Chronic1

Diagnosis2

Erythropoiesis1

Deletion1

Genes4

Disorder7

Globin chain3

Heterozygous1

Reduced or absent1

Gene4

Major8

Mutations3

Workup1

Genetics1

Intellectual disability3

Renal1

Blood disorders1

Heterogeneity1

Milder1

Symptoms2

Molecular1

Carrier rate1