Thalassemia

alpha-Thalassemia

alpha-Globins

Globins

Hemoglobinopathies

Hemoglobins, Abnormal

Erythrocyte Count

Fetal Hemoglobin

beta-Thalassemia

Reticulocytes

Hemoglobin E

Chelation Therapy

Iron Overload

Iron Chelating Agents

Hemoglobin A2

Blood Transfusion

Deferoxamine

Pyridones

beta-Globins

Anemia, Sickle Cell

alpha 1-Antitrypsin

Hemoglobin H

Sicily

Hemoglobin J

Iron

Homozygote

Erythrocytes, Abnormal

Receptors, Adrenergic, alpha

Sickle Cell Trait

Ferritins

Heterozygote

Hemoglobins

Hypoxia-Inducible Factor 1, alpha Subunit

Hemoglobin A

Erythrocyte Indices

Hemosiderosis

Base Sequence

delta-Thalassemia

Erythropoiesis

Hemoglobinometry

alpha7 Nicotinic Acetylcholine Receptor

Splenectomy

Hemoglobin, Sickle

Erythrocytes

Mutation

Integrin alpha3beta1

Alpha-thalassemia

Thalassemia

Antisense RNA

Heinz body

List of OMIM disorder codes

Delta-beta thalassemia

Hemoglobin subunit beta

Hemoglobin Barts

ATR-X syndrome

ATRX

Hemoglobin H disease

PBDC1

Epigenetics of human development

Hydrops fetalis

Hemoglobin, alpha 2

ATR-16 syndrome

Hemoglobinopathy

Hemoglobin subunit alpha

Hemoglobin electrophoresis

Hemoglobin A

ERAF

Yuet Wai Kan

Kath Maitland

Hemoglobin Constant Spring

Tharu people

Hemoglobin subunit zeta

HBAP1

List of hematologic conditions

Sickle cell trait

Beta thalassemia

Promoter (genetics)

Embryonic hemoglobin

Jan Aaseth

HBD

Chromosome 16

Mirror syndrome

Hepcidin

Chelation therapy

Hemoglobin O

High Resolution Melt

Ranbir Chander Sobti

HBG2

Genetic studies on Arabs

Jaundice

Wei-Shau Hu

Sickle cell nephropathy

Contaminated haemophilia blood products

Hemoglobin variants

List of syndromes

Stephen Oppenheimer

Inclusion bodies

Eirini Nikolopoulou

Congenital dyserythropoietic anemia type II

Deletions12

• Alpha-thalassemia typically results from deletions involving the HBA1 and HBA2 genes. (nih.gov)
• Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. (medscape.com)
• Deletions and nondeletion variants in one or more alleles reduce the amount of alpha-globin cells produce. (medlineplus.gov)
• Nondeletion variants tend to reduce alpha-globin more than deletions. (medlineplus.gov)
• Because nondeletion variants are usually more severe than deletions, nondeletion variants in two of the four alpha-globin alleles can result in HbH disease. (medlineplus.gov)
• Mutations and gene deletions causing the various thalassemia genotypes have arisen independently in different populations but have subsequently propagated by means of natural selection. (medscape.com)
• The deletions in the zeta-alpha globin gene cluster in two infants with the hemoglobin Bart's hydrops fetalis syndrome (homozygous alpha thalassemia 1) have been mapped by restriction endonuclease analysis using a zeta-specific probe. (ox.ac.uk)
• These lines of investigation offer an opportunity to explore the long-held observations that alpha globin gene deletions reduce the severity of malaria infection and delay or prevent the vascular complications of sickle cell anemia. (nih.gov)
• The frequency of the most common mutation, the Southeast Asian type of deletion (−− SEA , accounting for 48.54% of all α thalassaemias) was similar to the total of two α + thalassaemia deletions (−α 3.7 and −α 4.2 , accounting for 47.49% of α thalassaemia). (bmj.com)
• Alpha thalassemias are some of the most common genetic deletions. (nih.gov)
• To better understand how alpha globin deletions in healthy people affect blood vessels. (nih.gov)
• Both patients had two α-globin gene deletions (−α3.7/−α3.7), also known as alpha-thalassemia trait, and notably are the only patients in the study with this specific genotype. (businesswire.com)

Types of Alpha-thalassemia3

• Two types of alpha thalassemia can cause health problems. (medlineplus.gov)
• The different types of alpha thalassemia result from the loss or alteration of some or all of these alleles. (medlineplus.gov)
• However, the percentage of Hb Bart's used for thalassemia classification, the types of alpha-thalassemia reported, and the recipients of this information varied widely. (cdc.gov)

Genes34

• Less commonly, changes to the DNA sequence in or near these genes cause alpha thalassemia. (medlineplus.gov)
• Both the HBA1 and HBA2 genes provide instructions for making a protein called alpha-globin, which is a component (subunit) of hemoglobin . (medlineplus.gov)
• Alpha chain synthesis is controlled by four alpha genes, two on each copy of chromosome 16. (osmosis.org)
• And alpha thalassemia is caused by mutations in the alpha genes, most commonly a gene deletion. (osmosis.org)
• If a person has two defective alpha genes, the person has alpha thalassemia minor, which causes mild symptoms. (osmosis.org)
• When these genes are missing or altered, thalassemias occur. (hoacny.com)
• Thalassemias are inherited disorders-that is, they're passed from parents to children through genes. (hoacny.com)
• People who have moderate to severe forms of thalassemia have inherited faulty genes from both parents. (hoacny.com)
• You need four genes (two from each parent) to make enough alpha globin protein chains. (hoacny.com)
• If one or more of the genes is missing, you'll have alpha thalassemia trait or disease. (hoacny.com)
• If you're missing two genes, you have alpha thalassemia trait (also called alpha thalassemia minor). (hoacny.com)
• The alpha globin genes are located on chromosome 16. (hoacny.com)
• A child inherits four alpha globin genes (two from each parent). (hoacny.com)
• In this example, the father is missing two alpha globin genes and the mother is missing one alpha globin gene. (hoacny.com)
• Each child has a 25 percent chance of inheriting two missing genes and two normal genes (thalassemia trait), three missing genes and one normal gene (hemoglobin H disease), four normal genes (no anemia), or one missing gene and three normal genes (silent carrier). (hoacny.com)
• If one or both of these genes are altered, you'll have beta thalassemia. (hoacny.com)
• If both genes are altered, you'll have beta thalassemia intermedia or beta thalassemia major (also called Cooley's anemia). (hoacny.com)
• Each child has a 25 percent chance of inheriting two normal genes (no anemia), a 50 percent chance of inheriting one altered gene and one normal gene (beta thalassemia trait), or a 25 percent chance of inheriting two altered genes (beta thalassemia major). (hoacny.com)
• In case of alpha thalassemia, at least one of the alpha globin genes has an abnormality. (indiatimes.com)
• In beta thalassemia, the beta globin genes are affected. (indiatimes.com)
• One can only prevent thalassemia as it is inherited (passed from parents to children via genes). (indiatimes.com)
• Thalassemia develops when faulty genes prevent your body from making the right amount of alpha globin or beta globin chains. (nih.gov)
• If one or more of the genes is missing, you will have alpha thalassemia, which means your body does not make enough alpha globin protein. (nih.gov)
• If your parents have mutations in the alpha globin or beta globin genes, or in other genes that affect the alpha or beta globin proteins chains, then you can inherit thalassemia. (nih.gov)
• People of South Asian descent are more likely than other groups to have at least two missing alpha globin genes, causing more severe alpha thalassemia (hemoglobin H disease or alpha thalassemia major). (nih.gov)
• The alpha globin genotypes of 55 beta thalassaemia heterozygotes have been determined by restriction endonuclease analysis to identify those with interacting alpha thalassaemia genes. (ox.ac.uk)
• A comparison of the haematological and haemoglobin synthesis findings of individuals with normal alpha genotypes (alpha alpha/alpha alpha) with those with one (-alpha/alpha alpha) or two (-alpha/-alpha) alpha genes deleted shows that the latter two groups have more balanced globin chain synthesis ratios, higher haemoglobin levels, and larger, better haemoglobinized red cells. (ox.ac.uk)
• DNA from a Thai infant lacked the psi alpha 1 gene and both alpha genes, but the zeta genes were present. (ox.ac.uk)
• To estimate the prevalence of thalassaemia genes in Baghdad, a study was made of 502 randomly selected pregnant women attending a major maternity care clinic in the city. (who.int)
• Some studies have focused on the prevalence of thalassaemia genes in some Middle Eastern countries [1-4], but none were from Iraq, in spite of evidence suggesting that thalassaemias are not uncommon among Iraqis [5]. (who.int)
• A comprehensive national survey of the distribution of the sickle-cell [‎Hb S]‎ gene and thalassaemia genes was initiated in 1982, with more than 30,055 blood samples collected. (who.int)
• Part of the DNA is missing from a group of genes called alpha globin. (nih.gov)
• Alpha thalassemia trait is when someone has only two out of the normal four alpha globin genes. (nih.gov)
• Approximately 5% of the world's population carries trait genes for haemoglobin disorders, mainly, sickle-cell disease and thalassaemia. (who.int)

Trait8

• A loss of two of the four alpha-globin alleles results in alpha thalassemia trait. (medlineplus.gov)
• People with alpha thalassemia trait may have unusually small, pale red blood cells and mild anemia. (medlineplus.gov)
• If both parents are missing at least one alpha-globin allele, their children are at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia trait. (medlineplus.gov)
• This condition is called beta thalassemia trait or beta thalassemia minor. (hoacny.com)
• A simple blood test called Hb electrophoresis or Hb A2 can indicate whether you are a carrier or have a trait of thalassemia minor. (indiatimes.com)
• a-thalassaemia trait, on the other hand, was diagnosed in five subjects, based on the presence of microcytosis, with normal Hb A 2 and F and normal serum ferritin level (i.e. by exclusion of b- and db-thalassaemia, and iron deficiency as causes of microcytosis). (who.int)
• We are testing for alpha thalassemia trait. (nih.gov)
• Participants may be invited to participate in more research studies, whether or not researchers find that they have alpha thalassemia trait. (nih.gov)

Deletion6

• Yu J, Xie J, Luo L, Li Z. An Alu Element-Mediated 28.5?kb a-Thalassemia Deletion Found in a Chinese Family. (medscape.com)
• A reverse dot-blot method for rapid detection of non-deletion alpha thalassaemia. (medscape.com)
• Most alpha-thalassemias are due to deletion mutations, but there are also less common nondeletion mutations ( 5 ). (cdc.gov)
• Analysis of DNA polymorphisms promises to yield many further population markers, and we report here the distribution of a new alpha-globin gene deletion (-alpha 3.7 III) detected by a restriction enzyme mapping. (ox.ac.uk)
• In addition, two novel mutations that give rise to α thalassaemia, one deletion resulting in β thalassaemia, and a rare deletion (−− THAI allele) previously unreported in mainland China were detected. (bmj.com)
• In the SCD patients the frequency of single alpha-gene deletion [‎-alpha/alpha alpha]‎ was 0.346, compared to 0.263 in the Hb AA group. (who.int)

Forms of alpha thalassemia1

• Two additional forms of alpha thalassemia are related to a reduced amount of alpha-globin. (medlineplus.gov)

Known as alpha thalassemia1

• this leads to the clinical disease known as alpha thalassemia. (medscape.com)

Hydrops fetalis5

• Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. (medscape.com)
• The more severe type is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. (medlineplus.gov)
• This condition is called alpha thalassemia major or hydrops fetalis. (hoacny.com)
• Patients with β thalassaemia major inherit two mutant β globin alleles and develop a fatal anaemia in early childhood if untreated, whereas fetuses with Hb Barts' hydrops fetalis caused by the homozygous α 0 thalassaemia gene (−−/−−) die either in utero or shortly after birth as a result of severe intrauterine anaemia. (bmj.com)
• In addition, most patients with Hb H, which generally results from the combination of one α + thalassaemia (−α/ or α T α/) and one α 0 thalassaemia (−−/) defect, have moderately severe but variable anaemia, except for the rare case of α 0 thalassaemia in combination with a non-deletional α globin gene mutation, which can result in hydrops fetalis. (bmj.com)

Syndromes4

• The alpha thalassemia (α-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. (medscape.com)
• [ 10 ] Individuals with beta thalassemia syndromes have somewhat better protection against malaria than individuals with alpha thalassemia syndromes. (medscape.com)
• Thalassaemia syndromes are inherited defects in the rate of synthesis of one or more of the globin chains of haemoglobin. (who.int)
• Thalassemia syndromes are caused by an absence or ineffective synthesis of beta globin chains. (biomedcentral.com)

Prevalence2

• Despite a 5% global prevalence, alpha-thalassemia is not a core condition on the United States Recommended Uniform Screening Panel for state newborn screening (NBS) programs. (cdc.gov)
• This study reports the true prevalence of silent α thalassaemia in the southern China population for the first time. (bmj.com)

Genetic9

• Workup in alpha thalassemia relies primarily on laboratory evaluation, hemoglobin electrophoresis, and genetic testing (alpha thalassemia mutations panel). (medscape.com)
• Genetic mutations in the alpha-globin gene cluster on chromosome 16 are responsible for alpha-thalassemia, resulting in inefficient production of red blood cells, which affects organ function and growth and results in anemia and iron overload. (cdc.gov)
• Alpha-thalassemia is a genetic disorder where there's a deficiency in production of the alpha globin chains of hemoglobin, which is the oxygen-carrying protein in red blood cells. (osmosis.org)
• Thalassaemia is a blood-related, genetic disorder. (indiatimes.com)
• Thalassemia is a genetic, blood disorder. (indiatimes.com)
• Simple blood tests can help couples identify the risks of having a child with thalassemia or other genetic disorders. (indiatimes.com)
• Thalassaemia is a good candidate disease for control by preventive genetic programmes in developing countries. (bmj.com)
• 6. Progress toward the genetic treatment of the beta-thalassemias. (nih.gov)
• With a dedicated focus on severe genetic diseases, bluebird has industry-leading programs for sickle cell disease, β-thalassemia and cerebral adrenoleukodystrophy and is advancing research to apply new technologies to these and other diseases. (businesswire.com)

Example of how alpha thalassemia2

• The picture shows one example of how alpha thalassemia is inherited. (hoacny.com)
• Illustration showing an example of how alpha thalassemia is passed down from parent to child. (nih.gov)

Homozygous1

• 1. Gene therapy for homozygous beta-thalassemia. (nih.gov)

Syndrome4

• Hb Bart syndrome, the most severe form of alpha thalassemia, results from the loss or alteration of all four alpha-globin alleles. (medlineplus.gov)
• Individuals with thalassemia syndrome are most often of African, Asian, Mediterranean, or Middle Eastern descent. (medscape.com)
• Public health data for the United States are lacking, but in California, 1 in 10,000 newborns has an alpha-thalassemia syndrome ( 4 ). (cdc.gov)
• Megaloblastic anemia characterized by microcytosis: Imerslund-Grasbeck Syndrome with coexistent alpha-thalassemia. (stjude.org)

Form of thalassemia3

• This form of thalassemia causes moderate to severe anemia. (hoacny.com)
• In each year, over 50,000 new patients are born with a severe form of thalassemia (beta-thalassemia major and HbE beta thalassemia) worldwide. (biomedcentral.com)
• In many Asian countries, the most common form of thalassemia results from the coinheritance of beta thalassemia and HbE. (biomedcentral.com)

Symptoms3

• When Do Symptoms of Alpha-thalassemia Begin? (nih.gov)
• These individuals typically have no thalassemia-related signs or symptoms. (medlineplus.gov)
• If a person has one defective alpha gene, they're called a silent carrier, because they don't have symptoms, but can still pass the gene to their children. (osmosis.org)

Blood disorder4

• Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. (nih.gov)
• Alpha thalassemia is a fairly common blood disorder worldwide. (medlineplus.gov)
• Thalassemia is an inherited blood disorder that causes your body to produce less hemoglobin than normal. (nih.gov)
• Alpha thalassemia is a blood disorder. (nih.gov)

Genetics1

• You may be more likely to have thalassemia based on your family history and genetics and your race or ethnicity. (nih.gov)

Clinically significant1

• Standardization of screening and reporting might lead to more timely diagnoses and health care services and improved outcomes for persons with a clinically significant alpha-thalassemia. (cdc.gov)

Globin gene8

• A): a new silent ß-globin gene variant found in coexistence with a-thalassemia in a family of African origin. (medscape.com)
• Regulation of human alpha-globin gene expression and alpha-thalassemia. (medscape.com)
• We seek to understand how common structural variants in the human alpha globin gene loci affect expression of alpha globin in the vascular endothelium, alter the arterial response to vasoactive stimuli, and modify susceptibility to vascular complications of chronic and infectious diseases. (nih.gov)
• 2. Strategy for a multicenter phase I clinical trial to evaluate globin gene transfer in beta-thalassemia. (nih.gov)
• 4. Recent advances in globin gene transfer for the treatment of beta-thalassemia and sickle cell anemia. (nih.gov)
• 8. Globin gene transfer for treatment of the beta-thalassemias and sickle cell disease. (nih.gov)
• 11. A phase I/II clinical trial of beta-globin gene therapy for beta-thalassemia. (nih.gov)
• 12. Current status of globin gene therapy for the treatment of beta-thalassaemia. (nih.gov)

Carrier4

• Nondeletion variants in one or two alleles cause a range of conditions, from alpha thalassemia silent carrier to HbH disease, depending on the allele involved. (medlineplus.gov)
• If one of the parents is a carrier, the child develops thalassemia minor. (indiatimes.com)
• If someone in your family has thalassemia, you may be a carrier. (nih.gov)
• Due to extreme heterogeneity, an uneven frequency of beta thalassemia heterozygote or carrier in the range of 1 and 10% has been reported throughout different parts of India [ 2 ]. (biomedcentral.com)

Single-gene disorders3

• Thalassemia is one of the world's most common single-gene disorders. (medscape.com)
• Thalassemias are the most common single gene disorders ( 2 ), with approximately 5% of the world's population having an alpha-thalassemia variant ( 3 ). (cdc.gov)
• The inherited beta thalassemias including sickle cell anemia and hemoglobin E (HbE) disorders are the most frequent single gene disorders globally [ 1 ]. (biomedcentral.com)

Mutation3

• Melanesians and Polynesians share a unique alpha-thalassemia mutation. (ox.ac.uk)
• The mutation spectrum of α and β thalassaemia and its constitution were fully described in this area. (bmj.com)
• In this comprehensive review, the aim is to to depict the epidemiological aspects of thalassemias, mutation profile and current treatment and management practices in the country by sharing the experience of dealing with 1178 cases over 2009-2014 time periods in a specialized thalassemia treatment centre. (biomedcentral.com)

Clinical3

• A) with Deletional and Nondeletional a + -Thalassemia Mutations: Diverse Hematological and Clinical Features. (medscape.com)
• Standardization of technical and reporting procedures could provide data to better understand the public health impact and clinical outcomes of alpha-thalassemia, ensure appropriate health care, and improve outcomes. (cdc.gov)
• Despite the fact that Bangladesh lies in the world's thalassemia belt, the information on different aspects (epidemiology, clinical course, mortality, complications and treatment outcomes) of thalassemias is lacking. (biomedcentral.com)

Group of inherited disorders1

• Alpha-thalassemia comprises a group of inherited disorders in which alpha-hemoglobin chain production is reduced. (cdc.gov)

Globins1

• There are 4 major types of globins: alpha (α), beta (β), gamma (γ), and delta (δ). (medscape.com)

Anemia2

• Alpha thalassemia combined with sickle-cell anemia results in a higher hemoglobin concentration and improved RBC survival. (medscape.com)
• 9. Successful correction of the human Cooley's anemia beta-thalassemia major phenotype using a lentiviral vector flanked by the chicken hypersensitive site 4 chromatin insulator. (nih.gov)

Bart's4

• Although alpha-thalassemia is not a core condition of the United States Recommended Uniform Screening Panel* for state newborn screening programs, methodologies used by some newborn screening programs to detect sickle cell disease, which is a core panel condition, also detect a quantitative marker of alpha-thalassemia, hemoglobin (Hb) Bart's, an abnormal type of hemoglobin. (cdc.gov)
• The percentage of Hb Bart's detected correlates with alpha-thalassemia severity. (cdc.gov)
• Because screening platforms vary in their resolution and sensitivity for detection and quantification of aberrant hemoglobin species, using a different platform for the first round of screening compared with the second round maximizes the number of persons identified with Hb Bart's levels indicative of alpha-thalassemia. (cdc.gov)
• Inadequacy of Hb Bart's as an indicator of alpha thalassaemia. (ox.ac.uk)

Haemoglobin4

• And he'd, he's had a funny electrophoresis, because there was some tiny amounts of a funny haemoglobin, which he'd not seen before, and I was just looking at the correspondence the other day, and I wrote back and said, well, could this be a very badly synthesised alpha chain, let's have a look. (webofstories.com)
• The magnitude of the HU-related changes was similar for mean corpuscular volume (MCV) (no α-thalassaemia 13 fl and α-thalassaemia 13 fl) and mean corpuscular haemoglobin (MCH) (no α-thalassaemia 4 pg and α-thalassaemia 4 pg) in both groups. (nih.gov)
• Total haemoglobin increased after HU treatment in both groups, but the increase was smaller and not statistically significant in patients with α-thalassaemia. (nih.gov)
• The aim in this study was to address this issue, by utilizing electronically measured mean corpuscular volume (MCV), coupled with a battery of confirmatory haemoglobin (Hb) and iron studies [6], to screen and confirm the diagnosis of thalassaemia in an obstetric population attending a major maternity care clinic in central Baghdad. (who.int)

India4

• Alpha thalassaemia in tribal communities of coastal Maharashtra, India. (medscape.com)
• Alpha thalassemia also occurs frequently in people from Mediterranean countries, Africa, the Middle East, India, and Central Asia. (medlineplus.gov)
• India ranks the list when it comes to thalassaemia. (indiatimes.com)
• Most information on thalassemia in South Asia comes from studies conducted in India. (biomedcentral.com)

Screening5

• The Association of Public Health Laboratories' Hemoglobinopathy Workgroup conducted a survey of state newborn screening programs' alpha-thalassemia screening methodologies and reporting and follow-up practices. (cdc.gov)
• Survey findings indicated that 41 of 44 responding programs (93%) report some form of alpha-thalassemia results and 57% used a two-method screening protocol. (cdc.gov)
• To better understand newborn screening programs' alpha-thalassemia screening practices, the Association of Public Health Laboratories' Hemoglobinopathy Workgroup initiated the first nationwide survey of U.S. newborn screening programs in October 2016. (cdc.gov)
• Screening programmes for thalassaemia, based on the detection of low MCVs, could miss cases of the interaction of alpha and beta thalassaemia. (ox.ac.uk)
• The knowledge gained in this study will enable the projected number of pregnancies at risk to be estimated and a screening strategy for control of thalassaemia to be designed in this area. (bmj.com)

Malaria1

• Thalassemia is more prevalent in regions in which malaria is endemic because the RBC phenotype confers some protection against malaria. (medscape.com)

Patients8

• Over four million Indians are thalassemia carriers and more than 1, 00,000 are patients. (indiatimes.com)
• Thalassaemia patients should pursue universal immunisation to prevent exposure from infections. (indiatimes.com)
• Studies on the efficacy of HU in SCA patients with α-thalassaemia have yielded varying results. (nih.gov)
• In contrast, HU-related reduction in VOCs was more pronounced in patients with α-thalassaemia (VOC incidence rate ratio HU/placebo: 0.63 for α-thalassaemia and 0.54 for no α-thalassaemia (P for interaction 0.003). (nih.gov)
• CONCLUSION: Hydroxyurea decreases VOCs in SCA patients with and without α-thalassaemia, and the degree of VOC reduction was more pronounced in the patients with alpha-thalassaemia. (nih.gov)
• A group of Yemeni patients with sickle-cell disease [‎SCD]‎ and normal Hb AA individuals living in Riyadh were studied to determine the incidence of the alpha-gene molecular defect. (who.int)
• 14. The challenge of obtaining therapeutic levels of genetically modified hematopoietic stem cells in beta-thalassemia patients. (nih.gov)
• 20. Impact of β-globin mutations on outcome of matched related donor hematopoietic stem cell transplantation for patients with β-thalassemia major. (nih.gov)

Mild1

• The majority of individuals have enlargement of the spleen (and less commonly of the liver), mild jaundice, and sometimes thalassemia-like bone changes. (nih.gov)

Sickle cell4

• However, NBS methodologies used to detect sickle cell disease, reported by all states, also detect alpha-thalassemia. (cdc.gov)
• Publication: Alpha-thalassaemia and response to hydroxyurea in sickle cell anaemia. (nih.gov)
• He began his tenure-track work on endothelial alpha globin in the NHLBI sickle cell branch in 2014. (nih.gov)
• 17. Hematopoietic stem cell mobilization strategies for gene therapy of beta thalassemia and sickle cell disease. (nih.gov)

Prevalent1

• This is found frequently in Melanesians and Polynesians but not in five other populations in which alpha-thalassemia is prevalent. (ox.ac.uk)

Disease3

• HbH disease is usually caused by loss or alteration of three of the four alpha-globin alleles, which sharply reduces the amount of normal alpha-globin produced. (medlineplus.gov)
• A 2016 survey of NBS programs found that although most programs report at least one form of suspected alpha-thalassemia, the methodologies, thresholds used, forms of disease reported, and processes for reporting vary widely. (cdc.gov)
• On World Thalassaemia Day, Dr Rajni Khajuria, Lab Director at Igenomix and former researcher at AIIMS, Delhi, shares why it is important to spread awareness about the disease, and take necessary steps. (indiatimes.com)

Carriers3

• A loss of one alpha-globin allele is found in alpha thalassemia silent carriers. (medlineplus.gov)
• Overall, 11.07% of the population in this area were heterozygous carriers of α and β thalassaemia. (bmj.com)
• Most conservative estimates suggest that at least 5.2% of the world population (over 360 million) carry a significant hemoglobin variant [ 1 ] and in excess of 100 million beta thalassemia carriers with a global frequency of 1.5% [ 2 ]. (biomedcentral.com)

Synthesis1

• mutations that reduce alpha or beta global chain synthesis. (slideshare.net)

Deletional1

• Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. (ox.ac.uk)

Major1

• Due to remarkable success in the reduction of childhood mortality by controlling infectious diseases in developing countries, thalassemias are likely to be a major public health concern in the coming decades in South Asia. (biomedcentral.com)

Heterozygous1

• This suggests that the degree of globin chain imbalance is a significant factor in determining the red cell characteristics in heterozygous beta thalassaemia. (ox.ac.uk)

Variant1

• The present invention relates to the simultaneous and specific identification of the variant forms of α-thalassemia. (nih.gov)

Frequency2

• Accurate population frequency data are needed for planning the control of thalassaemia in the high risk Guangdong Province of southern China. (bmj.com)
• The Hb S, alpha- and beta-thalassaemia gene frequency range was 0.005-0.145, 0.01-0.40 and 0.01-0.15 respectively in various areas of Saudi Arabia. (who.int)

Beta6

• Muncie HL Jr, Campbell J. Alpha and beta thalassemia. (medscape.com)
• The dominant hemoglobin in adults (hemoglobin A) is composed of 2 alpha and 2 beta chains. (medscape.com)
• Hemoglobin has two kinds of protein chains: alpha globin and beta globin. (hoacny.com)
• The other kinds of thalassemia are alpha and beta. (indiatimes.com)
• How does beta thalassemia develop? (nih.gov)
• 13. Alpha and beta thalassemia. (nih.gov)