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Beta thalassemia intermedia(BTHAL-ITMD)

MedGen UID:
450544
•Concept ID:
C0472767
•
Disease or Syndrome
Synonym: BTHAL-ITMD
SNOMED CT: Beta thalassemia intermedia (191189009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016487
OMIM®: 141900
Orphanet: ORPHA231222

Definition

Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion. [from ORDO]

Recent clinical studies

Etiology

Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.
Musallam KM, Lombard L, Kistler KD, Arregui M, Gilroy KS, Chamberlain C, Zagadailov E, Ruiz K, Taher AT
Am J Hematol 2023 Sep;98(9):1436-1451. Epub 2023 Jun 26 doi: 10.1002/ajh.27006. PMID: 37357829
Non-Transfusion-Dependent Thalassemia: A Panoramic Review.
Shash H
Medicina (Kaunas) 2022 Oct 21;58(10) doi: 10.3390/medicina58101496. PMID: 36295656Free PMC Article
The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT
Int J Lab Hematol 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. PMID: 36074711Free PMC Article
Alpha- and Beta-thalassemia: Rapid Evidence Review.
Baird DC, Batten SH, Sparks SK
Am Fam Physician 2022 Mar 1;105(3):272-280. PMID: 35289581
Alpha and beta thalassemia.
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601

Diagnosis

The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT
Int J Lab Hematol 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. PMID: 36074711Free PMC Article
Alpha- and Beta-thalassemia: Rapid Evidence Review.
Baird DC, Batten SH, Sparks SK
Am Fam Physician 2022 Mar 1;105(3):272-280. PMID: 35289581
β-Thalassemia intermedia: a comprehensive overview and novel approaches.
Asadov C, Alimirzoeva Z, Mammadova T, Aliyeva G, Gafarova S, Mammadov J
Int J Hematol 2018 Jul;108(1):5-21. Epub 2018 Jan 29 doi: 10.1007/s12185-018-2411-9. PMID: 29380178
How I treat thalassemia.
Rachmilewitz EA, Giardina PJ
Blood 2011 Sep 29;118(13):3479-88. Epub 2011 Aug 2 doi: 10.1182/blood-2010-08-300335. PMID: 21813448
Alpha and beta thalassemia.
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601

Therapy

Non-Transfusion-Dependent Thalassemia: A Panoramic Review.
Shash H
Medicina (Kaunas) 2022 Oct 21;58(10) doi: 10.3390/medicina58101496. PMID: 36295656Free PMC Article
Retinal abnormalities in β-thalassemia major.
Bhoiwala DL, Dunaief JL
Surv Ophthalmol 2016 Jan-Feb;61(1):33-50. Epub 2015 Aug 29 doi: 10.1016/j.survophthal.2015.08.005. PMID: 26325202Free PMC Article
Guidelines for diagnosis and management of Beta-thalassemia intermedia.
Karimi M, Cohan N, De Sanctis V, Mallat NS, Taher A
Pediatr Hematol Oncol 2014 Oct;31(7):583-96. doi: 10.3109/08880018.2014.937884. PMID: 25247665
β-thalassemia intermedia: a clinical perspective.
Musallam KM, Taher AT, Rachmilewitz EA
Cold Spring Harb Perspect Med 2012 Jul;2(7):a013482. doi: 10.1101/cshperspect.a013482. PMID: 22762026Free PMC Article
Thalassemia and hypercoagulability.
Taher AT, Otrock ZK, Uthman I, Cappellini MD
Blood Rev 2008 Sep;22(5):283-92. Epub 2008 Jun 3 doi: 10.1016/j.blre.2008.04.001. PMID: 18511163

Prognosis

Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.
Musallam KM, Lombard L, Kistler KD, Arregui M, Gilroy KS, Chamberlain C, Zagadailov E, Ruiz K, Taher AT
Am J Hematol 2023 Sep;98(9):1436-1451. Epub 2023 Jun 26 doi: 10.1002/ajh.27006. PMID: 37357829
Digital thermography and vascular involvement in β-thalassemia intermedia.
Abdulhai F, Jaffa MA, Elias J, Zakka P, Hotait M, Bou-Fakhredin R, Arnaout S, Taher AT, Refaat MM
Ann Hematol 2021 Oct;100(10):2471-2477. Epub 2021 Jul 8 doi: 10.1007/s00277-021-04588-8. PMID: 34235558
Management of Children With β-Thalassemia Intermedia: Overview, Recent Advances, and Treatment Challenges.
Adly AA, Ismail EA
J Pediatr Hematol Oncol 2018 May;40(4):253-268. doi: 10.1097/MPH.0000000000001148. PMID: 29629992
Hemoglobinopathies in India--clinical and laboratory aspects.
Verma IC, Saxena R, Kohli S
Clin Lab Med 2012 Jun;32(2):249-62. doi: 10.1016/j.cll.2012.04.011. PMID: 22727003
How I treat thalassemia.
Rachmilewitz EA, Giardina PJ
Blood 2011 Sep 29;118(13):3479-88. Epub 2011 Aug 2 doi: 10.1182/blood-2010-08-300335. PMID: 21813448

Clinical prediction guides

Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.
Musallam KM, Lombard L, Kistler KD, Arregui M, Gilroy KS, Chamberlain C, Zagadailov E, Ruiz K, Taher AT
Am J Hematol 2023 Sep;98(9):1436-1451. Epub 2023 Jun 26 doi: 10.1002/ajh.27006. PMID: 37357829
β-Thalassemia in childhood: Current state of health in a high-income country.
Donze C, Benoit A, Thuret I, Faust C; NaThalY Network, Gauthier A, Berbis J, Badens C, Brousse V
Br J Haematol 2023 Apr;201(2):334-342. Epub 2023 Jan 6 doi: 10.1111/bjh.18631. PMID: 36606625
Protein C and S levels in patients with Thalassemia intermedia.
Mohammed NS
J Med Life 2022 Nov;15(11):1415-1418. doi: 10.25122/jml-2021-0316. PMID: 36567848Free PMC Article
Digital thermography and vascular involvement in β-thalassemia intermedia.
Abdulhai F, Jaffa MA, Elias J, Zakka P, Hotait M, Bou-Fakhredin R, Arnaout S, Taher AT, Refaat MM
Ann Hematol 2021 Oct;100(10):2471-2477. Epub 2021 Jul 8 doi: 10.1007/s00277-021-04588-8. PMID: 34235558
β-thalassemia intermedia: a clinical perspective.
Musallam KM, Taher AT, Rachmilewitz EA
Cold Spring Harb Perspect Med 2012 Jul;2(7):a013482. doi: 10.1101/cshperspect.a013482. PMID: 22762026Free PMC Article

Recent systematic reviews

Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.
Musallam KM, Lombard L, Kistler KD, Arregui M, Gilroy KS, Chamberlain C, Zagadailov E, Ruiz K, Taher AT
Am J Hematol 2023 Sep;98(9):1436-1451. Epub 2023 Jun 26 doi: 10.1002/ajh.27006. PMID: 37357829
Hydroxyurea for nontransfusion-dependent β-thalassemia: A systematic review and meta-analysis.
Algiraigri AH, Wright NAM, Paolucci EO, Kassam A
Hematol Oncol Stem Cell Ther 2017 Sep;10(3):116-125. Epub 2017 Apr 6 doi: 10.1016/j.hemonc.2017.02.002. PMID: 28408107
Cerebral thrombosis in patients with β-thalassemia: a systematic review.
Haghpanah S, Karimi M
Blood Coagul Fibrinolysis 2012 Apr;23(3):212-7. doi: 10.1097/MBC.0b013e3283502975. PMID: 22322139

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2023
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hemoglobin F-Only; Hemoglobin F With Decreased A, 2023
    • ACMG Algorithm, 2023
      ACMG Algorithm, Hemoglobin F Only or F with Decreased A: Transfusion Dependent or Non Transfusion Dependent beta-Thalassemia; Hb beta 0 Thalassemia; Hb beta+/beta+ Thalassemia; Hb beta0/beta+ Thalassemia Screening Result, 2023
    • ACMG Algorithm, 2009
      American College of Medical Genetics and Genomics, Algorithm, Hb Screening (non-S), 2009

    Reviews

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