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Thalassemia (CUI C0039730) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0039730

NCI Thesaurus Code: C35069  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.

GARD Definition: Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. There are two main types of thalassemia, alpha thalassemia and beta thalassemia. Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of skin (jaundice), and bone problems. Beta thalassemia is caused by changes (mutations) in the HBB gene while alpha thalassemia is caused by mutations in the HBA1 and/or HBA2 genes. Both are inherited in an autosomal recessive manner. Treatment depends on the type and severity of the condition but may include blood transfusions and/or folic acid supplements. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.

Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones.

Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant.

NIH: National Heart, Lung, and Blood Institute

NICHD Definition: An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.

CSP Definition: heterogeneous group of hereditary hemolytic anemias which have in common a decreased rate of synthesis of one or more hemoglobin polypeptide chains.

MSH Definition: A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.

Synonyms & Abbreviations: (see Synonym Details)
Hereditary leptocytosis
Thalassaemia NOS
Thalassaemia syndrome
Thalassaemia, unspecified
Thalassaemias
Thalassaemia
Thalassaemic disorders
Thalassemia (disorder)
Thalassemia [Disease/Finding]
Thalassemia NOS
Thalassemia syndrome (disorder)
Thalassemia syndrome
Thalassemia, unspecified
Thalassemias
thalassemia

External Source Codes: 
NCI Thesaurus Code C35069 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN a congen hemolytic anemia; GEN or unspecified: prefer specifics; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID XE13k SNOMEDCT_US
CTV3ID XUM4W SNOMEDCT_US
DATE_CREATED 10/17/2005 MEDLINEPLUS
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1418-5761 CSP
DX 19650101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXCLUDES1 sickle-cell thalassemia (D57.4-) ICD10CM
HAS_GARD_PAGE true GARD
HN 65; was ANEMIA, ERYTHROBLASTIC 1963-64; ANEMIA, TARGET-CELL was see THALASSEMIA 1965-92 MSH
IAN DEFAULT ICD10
ICE Thalassemia NOS ICD9CM
INCLUSION_TERM Mediterranean anaemia (with other haemoglobinopathy) ICD10
INCLUSION_TERM Thalassaemia (minor)(mixed)(with other haemoglobinopathy) ICD10
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-08-11T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia. NDFRT
MESH_DUI D013789 NDFRT
MESH_NAME Thalassemia NDFRT
MESH_UI M0021265 NDFRT
MMR 20120703 MSH
MN C15.378.071.141.150.875 MSH
MN C15.378.420.826 MSH
MN C16.320.070.875 MSH
MN C16.320.365.826 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/thalassemia.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Chinese - Simplified https://www.nlm.nih.gov/medlineplus/languages/thalassemia.html#Chinese - Simplified MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Chinese - Traditional https://www.nlm.nih.gov/medlineplus/languages/thalassemia.html#Chinese - Traditional MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/thalassemia.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Heart, Lung, and Blood Institute http://www.nhlbi.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Thalassemia NCI
NUI N0000002919 NDFRT
OL use THALASSEMIA to search ANEMIA, TARGET-CELL 1966-92 MSH
ORDER_NO 03363 ICD10CM
ORDER_NO 03371 ICD10CM
PM 65; was ANEMIA, ERYTHROBLASTIC 1963-64; ANEMIA, TARGET-CELL was see THALASSEMIA 1965-92 MSH
PRIMARY_PATH 10043388$10018903$10005330$10010331$Thalassaemia$Haemoglobinopathies congenital$Blood and lymphatic system disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7756/thalassemia/resources/1 GARD
RXAUI 3247894 RXNORM
RXAUI 3247897 RXNORM
RXAUI 5040007 RXNORM
RXCUI 1022219 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 40108008 NDFRT
SNOMED_CID 84188003 NDFRT
SNOMEDID DC-13200 SNOMEDCT_US
SNOMEDID DC-13210 SNOMEDCT_US
SOS Excludes: sickle-cell: {disease (282.60-282.69); trait (282.5)} ICD9CM
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D56.9 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~D56.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D56.9 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D56.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~D56.9 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XE13k SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUM4W SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DC-13200 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DC-13210 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T040489 MSH
TERMUI T811927 MSH
TH BIOETHICS (1977) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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