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Dominant beta-thalassemia

MedGen UID:
347036
Concept ID:
C1858990
Disease or Syndrome
Synonyms: Beta-thalassemia, dominant inclusion body type; DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE
SNOMED CT: Dominant beta-thalassemia (716682000); Inclusion body beta-thalassemia (716682000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): HBB (11p15.4)
 
Monarch Initiative: MONDO:0011381
OMIM®: 603902
Orphanet: ORPHA231226

Definition

Dominantly inherited inclusion body beta-thalassemia is characterized by the presence of inclusion bodies in red blood cell precursors, moderately severe anemia, jaundice, and splenomegaly (summary by Ropero et al., 2005). [from OMIM]

Additional description

From MedlinePlus Genetics
Thalassemia intermedia is milder than thalassemia major. The signs and symptoms of thalassemia intermedia appear in early childhood or later in life. Affected individuals have mild to moderate anemia and may also have slow growth, bone abnormalities, and an increased risk of developing abnormal blood clots.

Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. Over time, an influx of iron-containing hemoglobin from chronic blood transfusions can lead to a buildup of iron in the body, resulting in liver, heart, and hormone problems.

The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop yellowing of the skin and whites of the eyes (jaundice). Affected individuals may have an enlarged spleen, liver, and heart, and their bones may be misshapen. Puberty is delayed in some adolescents with thalassemia major. 

Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major (also known as transfusion-dependent thalassemia or Cooley's anemia) and thalassemia intermedia (which is a non-transfusion-dependent thalassemia). Of the two types, thalassemia major is more severe.

In people with beta thalassemia, low levels of hemoglobin reduce oxygen levels in the body. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots.

Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.  https://medlineplus.gov/genetics/condition/beta-thalassemia

Clinical features

From HPO
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Persistence of hemoglobin F
MedGen UID:
68693
Concept ID:
C0239941
Finding
Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.
Decreased mean corpuscular hemoglobin concentration
MedGen UID:
605648
Concept ID:
C0427437
Finding
A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.
Erythrocyte inclusion bodies
MedGen UID:
1670950
Concept ID:
C1954880
Cell
Nuclear or cytoplasmic aggregates of substances in red blood cells.
Increased HbA2 hemoglobin
MedGen UID:
893100
Concept ID:
C4073172
Finding
An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.
Microcytic anemia
MedGen UID:
1673948
Concept ID:
C5194182
Disease or Syndrome
A kind of anemia in which the volume of the red blood cells is reduced.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDominant beta-thalassemia
Follow this link to review classifications for Dominant beta-thalassemia in Orphanet.

Professional guidelines

PubMed

Suali L, Mohammad Salih FA, Ibrahim MY, Jeffree MSB, Thomas FM, Siew Moy F, Shook Fe Y, Suali E, Sudi S, Sunggip C
Hemoglobin 2022 Nov;46(6):317-324. Epub 2023 Feb 23 doi: 10.1080/03630269.2023.2169154. PMID: 36815306
Chatterjee R, Bajoria R
Hemoglobin 2009;33 Suppl 1:S127-30. doi: 10.3109/09553000903347880. PMID: 20001615
Weatherall DJ
Nat Rev Genet 2001 Apr;2(4):245-55. doi: 10.1038/35066048. PMID: 11283697

Recent clinical studies

Etiology

Yao C, Chen L, Ma J, Li N, Lin J, Huang L, Lin Y, Xue J
Hemoglobin 2024 May;48(3):182-185. Epub 2024 Aug 5 doi: 10.1080/03630269.2024.2376588. PMID: 39103314
Vichinsky EP, MacKlin EA, Waye JS, Lorey F, Olivieri NF
Pediatrics 2005 Dec;116(6):e818-25. Epub 2005 Nov 15 doi: 10.1542/peds.2005-0843. PMID: 16291734

Diagnosis

Yao C, Chen L, Ma J, Li N, Lin J, Huang L, Lin Y, Xue J
Hemoglobin 2024 May;48(3):182-185. Epub 2024 Aug 5 doi: 10.1080/03630269.2024.2376588. PMID: 39103314
Chen HQ, Wu LS, Jiang F, Li DZ
Hemoglobin 2021 Sep;45(5):329-331. Epub 2021 Dec 27 doi: 10.1080/03630269.2021.2016441. PMID: 34957901
Lin W, Zhang Q, Shen Z, Qu X, Wang Q, Wei L, Qiu Y, Yang J, Xu X, Lao J
Int J Lab Hematol 2021 Dec;43(6):1620-1627. Epub 2021 Jul 16 doi: 10.1111/ijlh.13639. PMID: 34271589
Scheps KG, Hasenahuer MA, Parisi G, Fornasari MS, Pennesi SP, Erramouspe B, Basack FN, Veber ES, Aversa L, Elena G, Varela V
Eur J Haematol 2015 Jun;94(6):498-503. Epub 2014 Nov 27 doi: 10.1111/ejh.12456. PMID: 25284604
Vichinsky EP, MacKlin EA, Waye JS, Lorey F, Olivieri NF
Pediatrics 2005 Dec;116(6):e818-25. Epub 2005 Nov 15 doi: 10.1542/peds.2005-0843. PMID: 16291734

Therapy

Waye JS, Walker L, Lafferty J, Lemire EG, Chui DH
Hemoglobin 2002 Feb;26(1):83-6. doi: 10.1081/hem-120002945. PMID: 11939518

Prognosis

Yao C, Chen L, Ma J, Li N, Lin J, Huang L, Lin Y, Xue J
Hemoglobin 2024 May;48(3):182-185. Epub 2024 Aug 5 doi: 10.1080/03630269.2024.2376588. PMID: 39103314
Scheps KG, Hasenahuer MA, Parisi G, Targovnik HM, García E, Veber ES, Crisp R, Elena G, Varela V, Fornasari MS
Eur J Haematol 2018 Jun;100(6):529-535. Epub 2018 Mar 1 doi: 10.1111/ejh.13029. PMID: 29319890
Scheps KG, Hasenahuer MA, Parisi G, Fornasari MS, Pennesi SP, Erramouspe B, Basack FN, Veber ES, Aversa L, Elena G, Varela V
Eur J Haematol 2015 Jun;94(6):498-503. Epub 2014 Nov 27 doi: 10.1111/ejh.12456. PMID: 25284604
Premawardhena A, Fisher CA, Olivieri NF, de Silva S, Sloane-Stanley J, Wood WG, Weatherall DJ
Blood 2005 Nov 1;106(9):3251-5. Epub 2005 Jun 9 doi: 10.1182/blood-2005-02-0593. PMID: 15947092

Clinical prediction guides

Yao C, Chen L, Ma J, Li N, Lin J, Huang L, Lin Y, Xue J
Hemoglobin 2024 May;48(3):182-185. Epub 2024 Aug 5 doi: 10.1080/03630269.2024.2376588. PMID: 39103314
Scheps KG, Hasenahuer MA, Parisi G, Targovnik HM, García E, Veber ES, Crisp R, Elena G, Varela V, Fornasari MS
Eur J Haematol 2018 Jun;100(6):529-535. Epub 2018 Mar 1 doi: 10.1111/ejh.13029. PMID: 29319890
Scheps KG, Hasenahuer MA, Parisi G, Fornasari MS, Pennesi SP, Erramouspe B, Basack FN, Veber ES, Aversa L, Elena G, Varela V
Eur J Haematol 2015 Jun;94(6):498-503. Epub 2014 Nov 27 doi: 10.1111/ejh.12456. PMID: 25284604
Vichinsky EP, MacKlin EA, Waye JS, Lorey F, Olivieri NF
Pediatrics 2005 Dec;116(6):e818-25. Epub 2005 Nov 15 doi: 10.1542/peds.2005-0843. PMID: 16291734
Premawardhena A, Fisher CA, Olivieri NF, de Silva S, Sloane-Stanley J, Wood WG, Weatherall DJ
Blood 2005 Nov 1;106(9):3251-5. Epub 2005 Jun 9 doi: 10.1182/blood-2005-02-0593. PMID: 15947092

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