Thalassemia, Hispanic Gamma-Delta-Beta malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Nephrological diseases categories

Aliases & Classifications for Thalassemia, Hispanic Gamma-Delta-Beta

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46OMIM, 8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 39NCIt, 56SNOMED-CT, 33MeSH, 27ICD9CM, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
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Aliases & Descriptions for Thalassemia, Hispanic Gamma-Delta-Beta:

Name: Thalassemia, Hispanic Gamma-Delta-Beta 46 9
Mediterranean Anemia 64 19 42 21 48
Beta-Thalassemia 46 64 19 42 44
Thalassemia Intermedia 64 42 20 61
Thalassemia Major 64 42 20 44
Beta Thalassemia 8 20 21 61
Cooley's Anemia 64 19 42 61
Beta-Thalassemia Intermedia 42 48 22
Erythroblastic Anemia 64 42 21
Thalassemia Minor 42 20 61
Beta Thalassemia Intermedia 42 61
Intermedia Thalassemia 44 22
Thalassemia, Beta Type 21 22
Beta-Thalassemia Major 48 22
Beta Thalassemia Minor 42 22
Microcytemia, Beta Type 21
Beta Thalassemia Major 42
Thalassemias, Beta- 46
Cooley Anemia 48


Characteristics (Orphanet epidemiological data):

beta-thalassemia intermedia:
Inheritance: Autosomal recessive; Age of onset: Childhood
mediterranean anemia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

External Ids:

OMIM46 613985
Disease Ontology8 DOID:12241
NCIt39 C34375
MeSH33 D017086
ICD9CM27 282.44
Orphanet48 231222, 231214
ICD10 via Orphanet26 D56.1
UMLS via Orphanet62 C0472767
ICD1025 D56.1

Summaries for Thalassemia, Hispanic Gamma-Delta-Beta

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OMIM:46 Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the... (613985) more...

MalaCards based summary: Thalassemia, Hispanic Gamma-Delta-Beta, also known as mediterranean anemia, is related to thalassemia and hemoglobin e - beta-thalassemia, and has symptoms including pallor, microcytic anemia and hypersplenism. An important gene associated with Thalassemia, Hispanic Gamma-Delta-Beta is LCRB (locus control region, beta). The drug sodium phenylbutyrate has been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow.

Disease Ontology:8 A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.

NIH Rare Diseases:42 Beta-thalassemia is a blood disorder that reduces the production of hemoglobin. without sufficient hemoglobin, red blood cells do not develop normally, causing a shortage of mature red blood cells, leading to anemia and other health problems. severe beta-thalassemia is called “thalassemia major” or “cooley’s anemia.” thalassemia intermedia is the less severe form. mutations in the hbb gene cause beta-thalassemia. this condition is usually inherited in an autosomal recessive fashion, which means people with beta thalassemia have mutations in both of their hbb genes. people who have only one hbb mutation may have no symptoms or develop mild symptoms; these individuals are said to have thalassemia minor. last updated: 7/7/2011

Genetics Home Reference:21 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.

GeneReviews summary for b-thal

Related Diseases for Thalassemia, Hispanic Gamma-Delta-Beta

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Diseases related to Thalassemia, Hispanic Gamma-Delta-Beta via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
2hemoglobin e - beta-thalassemia10.8
3sickle beta thalassemia10.7
4hemoglobin e disease10.7
5sickle cell anemia10.6
6deficiency anemia10.6
7iron deficiency anemia10.6
9sickle cell - beta-thalassemia disease10.6
10hemoglobin c - beta-thalassemia10.6
12fetal hemoglobin quantitative trait locus 110.5
15sickle cell disease10.5
16hemoglobin s beta-thalassemia10.5
18hepatitis c10.4
19dominant beta-thalassemia10.4
20thrombocytopenia with beta-thalassemia, x-linked10.4
21splenic sequestration10.4
22hemoglobin lepore - beta-thalassemia10.4
23hereditary persistence of fetal hemoglobin - beta-thalassemia10.4
25glucose-6-phosphate dehydrogenase deficiency10.4
26sickle delta beta thalassemia10.4
27hepatitis c virus10.3
28pseudoxanthoma elasticum10.3
29hematopoietic stem cell transplantation10.3
30hemolytic anemia10.3
32angioid streaks10.3
34microcytic anemia10.3
36hydrops fetalis10.3
37gata1-related thrombocytopenia with beta-thalassemia10.3
39pulmonary function10.3
40porphyria cutanea tarda10.2
41tay-sachs disease10.2
43thalassemia-beta, dominant inclusion-body10.2
44crohn's disease10.2
46gilbert syndrome10.2
47congenital dyserythropoietic anemia10.2
50hereditary elliptocytosis10.2

Graphical network of the top 20 diseases related to Thalassemia, Hispanic Gamma-Delta-Beta:

Diseases related to thalassemia, hispanic gamma-delta-beta

Symptoms for Thalassemia, Hispanic Gamma-Delta-Beta

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Clinical features from OMIM:



 48 (show all 50)
  • splenomegaly
  • anomalies of bones/skeletal anomalies
  • anaemia
  • microcytic anemia
  • hemoglobinosis/hemoglobinopathy
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • hyperferritinemia/iron overload
  • chronic skin infection/ulcerations/ulcers/cancrum
  • pulmonary hypertension
  • venous thrombosis/phlebitis/thrombophlebitis
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • hypersplenism
  • autosomal recessive inheritance
  • pallor
  • skull/cranial anomalies
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • prominent premaxillary region/midface
  • depressed nasal bridge
  • anomalies of teeth and dentition
  • genu valgum
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • malabsorption/chronic diarrhea/steatorrhea
  • hepatitis/icterus/cholestasis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • late puberty/hypogonadism/hypogenitalism
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • muscle weakness/flaccidity
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • fever/chilling
  • cataract/lens opacification
  • night blindness/hemeralopia
  • mild visual loss/impaired visual acuity
  • achromatopsia/dyschromatopsia/daltonism/impaired colour vision
  • hearing loss/hypoacusia/deafness
  • anomalies of chest/thorax/trunk
  • cirrhosis
  • abnormal hepatic enzymes/transaminases
  • cardiomyopathy/hypertrophic/dilated
  • cardiac rhythm disorder/arrhythmia
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • hypothyroidy
  • hypoparathyroidy
  • cortico-adrenal hypoplasia/insufficiency
  • diabetes mellitus
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • articular/joint pain/arthralgia
  • bone marrow failure/pancytopenia

HPO human phenotypes related to Thalassemia, Hispanic Gamma-Delta-Beta:

(show all 50)
id Description Frequency HPO Source Accession
1 pallor hallmark (90%) HP:0000980
2 microcytic anemia hallmark (90%) HP:0001935
3 hypersplenism hallmark (90%) HP:0001971
4 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472
5 abnormality of the skeletal system hallmark (90%) HP:0000924
6 splenomegaly hallmark (90%) HP:0001744
7 abnormality of the genital system typical (50%) HP:0000078
8 abnormality of the teeth typical (50%) HP:0000164
9 upslanted palpebral fissure typical (50%) HP:0000582
10 behavioral abnormality typical (50%) HP:0000708
11 abnormality of the skull typical (50%) HP:0000929
12 biliary tract abnormality typical (50%) HP:0001080
13 muscle weakness typical (50%) HP:0001324
14 malabsorption typical (50%) HP:0002024
15 respiratory insufficiency typical (50%) HP:0002093
16 hepatomegaly typical (50%) HP:0002240
17 genu valgum typical (50%) HP:0002857
18 paresthesia typical (50%) HP:0003401
19 reduced bone mineral density typical (50%) HP:0004349
20 abnormality of temperature regulation typical (50%) HP:0004370
21 depressed nasal bridge typical (50%) HP:0005280
22 feeding difficulties in infancy typical (50%) HP:0008872
23 malar prominence typical (50%) HP:0010620
24 abnormality of iron homeostasis typical (50%) HP:0011031
25 hearing impairment occasional (7.5%) HP:0000365
26 visual impairment occasional (7.5%) HP:0000505
27 cataract occasional (7.5%) HP:0000518
28 abnormality of color vision occasional (7.5%) HP:0000551
29 night blindness occasional (7.5%) HP:0000662
30 abnormality of the thorax occasional (7.5%) HP:0000765
31 diabetes mellitus occasional (7.5%) HP:0000819
32 hypothyroidism occasional (7.5%) HP:0000821
33 hypoparathyroidism occasional (7.5%) HP:0000829
34 anterior hypopituitarism occasional (7.5%) HP:0000830
35 cirrhosis occasional (7.5%) HP:0001394
36 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
37 sudden cardiac death occasional (7.5%) HP:0001645
38 pulmonary hypertension occasional (7.5%) HP:0002092
39 skeletal dysplasia occasional (7.5%) HP:0002652
40 arthralgia occasional (7.5%) HP:0002829
41 neoplasm of the liver occasional (7.5%) HP:0002896
42 elevated hepatic transaminases occasional (7.5%) HP:0002910
43 thrombophlebitis occasional (7.5%) HP:0004418
44 bone marrow hypocellularity occasional (7.5%) HP:0005528
45 primary adrenal insufficiency occasional (7.5%) HP:0008207
46 skin ulcer occasional (7.5%) HP:0200042
47 biliary tract abnormality occasional (7.5%) HP:0001080
48 thrombocytopenia occasional (7.5%) HP:0001873
49 hypochromic microcytic anemia HP:0004840
50 reduced beta/alpha synthesis ratio HP:0011906

Drugs & Therapeutics for Thalassemia, Hispanic Gamma-Delta-Beta

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Drug clinical trials:

Search ClinicalTrials for Thalassemia, Hispanic Gamma-Delta-Beta

Search NIH Clinical Center for Thalassemia, Hispanic Gamma-Delta-Beta

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Thalassemia, Hispanic Gamma-Delta-Beta

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Genetic tests related to Thalassemia, Hispanic Gamma-Delta-Beta:

id Genetic test Affiliating Genes
1 Beta-Thalassemia20 HBB
2 Thalassemia Major20
3 Thalassemia Intermedia20 22
4 Thalassemia Minor20
5 Beta Thalassemia22
6 Beta Thalassemia Minor22
7 Beta Thalassemia Major22
8 Beta Thalassemia Intermedia22

Anatomical Context for Thalassemia, Hispanic Gamma-Delta-Beta

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MalaCards organs/tissues related to Thalassemia, Hispanic Gamma-Delta-Beta:

Bone, Liver, Bone marrow, Skin, Lung

Animal Models for Thalassemia, Hispanic Gamma-Delta-Beta or affiliated genes

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Publications for Thalassemia, Hispanic Gamma-Delta-Beta

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Variations for Thalassemia, Hispanic Gamma-Delta-Beta

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UniProtKB/Swiss-Prot genetic disease variations for Thalassemia, Hispanic Gamma-Delta-Beta:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Thalassemia, Hispanic Gamma-Delta-Beta:

5 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1HBBNM_000518.4(HBB): c.92G> C (p.Arg31Thr)single nucleotide variantPathogenicrs33960103GRCh37Chr 11, 5248160: 5248160
2HBBNM_000518.4(HBB): c.59A> G (p.Asn20Ser)single nucleotide variantPathogenicrs33972047GRCh37Chr 11, 5248193: 5248193
3HBBNM_000518.4(HBB): c.25_26delAA (p.Lys9Valfs)deletionPathogenicrs35497102GRCh37Chr 11, 5248226: 5248227
4HBBNM_000518.4(HBB): c.93-22_95del25deletionLikely pathogenic, Pathogenicrs193922563GRCh37Chr 11, 5248027: 5248051
5HBBNM_000518.4(HBB): c.92+5G> Csingle nucleotide variantPathogenicrs33915217GRCh37Chr 11, 5248155: 5248155
6HBBNM_000518.4(HBB): c.92+5G> Asingle nucleotide variantPathogenicrs33915217GRCh37Chr 11, 5248155: 5248155
7HBBNM_000518.4(HBB): c.92+6T> Csingle nucleotide variantPathogenicrs35724775GRCh37Chr 11, 5248154: 5248154
8HBBNM_000518.4(HBB): c.93-21G> Asingle nucleotide variantPathogenicrs35004220GRCh37Chr 11, 5248050: 5248050
9HBBNM_000518.4(HBB): c.316-106C> Gsingle nucleotide variantPathogenicrs34690599GRCh37Chr 11, 5247062: 5247062
10HBBNM_000518.4(HBB): c.316-197C> Tsingle nucleotide variantPathogenicrs34451549GRCh37Chr 11, 5247153: 5247153
11HBBNM_000518.4(HBB): c.75T> A (p.Gly25=)single nucleotide variantPathogenicrs33951465GRCh37Chr 11, 5248177: 5248177
12HBBNM_000518.4(HBB): c.-50-88C> Tsingle nucleotide variantPathogenicrs33944208GRCh37Chr 11, 5248389: 5248389
13HBBNM_000518.4(HBB): c.-136C> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs33994806GRCh37Chr 11, 5248387: 5248387
14HBBNM_000518.4(HBB): c.-80T> Asingle nucleotide variantPathogenicrs33980857GRCh37Chr 11, 5248331: 5248331
15HBBNM_000518.4(HBB): c.-50-29A> Gsingle nucleotide variantPathogenicrs34598529GRCh37Chr 11, 5248330: 5248330
16HBBNM_000518.4(HBB): c.-78A> Gsingle nucleotide variantPathogenicrs33931746GRCh37Chr 11, 5248329: 5248329
17HBBNM_000518.4(HBB): c.143dupA (p.Asp48Glufs)duplicationPathogenicrs35894115GRCh37Chr 11, 5247978: 5247979
18HBBNM_000518.4(HBB): c.-140C> Tsingle nucleotide variantPathogenicrs34999973GRCh37Chr 11, 5248391: 5248391
19HBBNM_000518.4(HBB): c.116_117delCC (p.Gln40Glufs)deletionPathogenicrs267607298GRCh37Chr 11, 5248005: 5248006
20HBBNM_000518.4(HBB): c.-136C> Tsingle nucleotide variantLikely pathogenicrs33994806GRCh37Chr 11, 5248387: 5248387
21HBBNM_000518.4(HBB): c.-50A> Csingle nucleotide variantLikely pathogenicrs34305195GRCh37Chr 11, 5248301: 5248301
22HBBNM_000518.4(HBB): c.19_20delGAinsAT (p.Glu7Met)indelLikely pathogenicrs193922552GRCh37Chr 11, 5248232: 5248233
23HBBNM_000518.4(HBB): c.27dupG (p.Ser10Valfs*14)duplicationPathogenicrs35699606GRCh37Chr 11, 5248224: 5248225
24HBBNM_000518.4(HBB): c.287dupA (p.Leu97Alafs)duplicationLikely pathogenicrs34937014GRCh37Chr 11, 5247835: 5247835
25HBBNM_000518.4(HBB): c.2T> C (p.Met1Thr)single nucleotide variantLikely pathogenic, Pathogenicrs33941849GRCh37Chr 11, 5248250: 5248250
26HBBNM_000518.4(HBB): c.316-14T> Gsingle nucleotide variantPathogenicrs35703285GRCh37Chr 11, 5246970: 5246970
27HBBNM_000518.4(HBB): c.92+2T> Csingle nucleotide variantPathogenicrs33956879GRCh37Chr 11, 5248158: 5248158
28HBBNM_000518.4(HBB): c.92G> A (p.Arg31Lys)single nucleotide variantLikely pathogenicrs33960103GRCh37Chr 11, 5248160: 5248160
29HBBNM_000518.4(HBB): c.93-3T> Gsingle nucleotide variantLikely pathogenicrs34527846GRCh37Chr 11, 5248032: 5248032

Expression for genes affiliated with Thalassemia, Hispanic Gamma-Delta-Beta

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Search GEO for disease gene expression data for Thalassemia, Hispanic Gamma-Delta-Beta.

Pathways for genes affiliated with Thalassemia, Hispanic Gamma-Delta-Beta

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Compounds for genes affiliated with Thalassemia, Hispanic Gamma-Delta-Beta

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GO Terms for genes affiliated with Thalassemia, Hispanic Gamma-Delta-Beta

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Sources for Thalassemia, Hispanic Gamma-Delta-Beta

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet