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Beta thalassemia intermedia(BTHAL-ITMD)

MedGen UID:
450544
Concept ID:
C0472767
Disease or Syndrome
Synonyms: BTHAL-ITMD; Thalassemia intermedia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Beta thalassemia intermedia (191189009)
 
OMIM®: 141900
Orphanet: ORPHA231222

Recent clinical studies

Etiology

Amoozgar H, Zeighami S, Haghpanah S, Karimi M
Hematology 2017 Jan;22(1):25-29. Epub 2016 Sep 20 doi: 10.1080/10245332.2016.1226699. PMID: 27650671
Kanavaki A, Kattamis A, Delaporta P, Papassotiriou I, Spengos K
In Vivo 2015 Jul-Aug;29(4):501-4. PMID: 26130796
Shamoon RP, Al-Allawi NA, Cappellini MD, Di Pierro E, Brancaleoni V, Granata F
Hemoglobin 2015;39(3):178-83. Epub 2015 Apr 22 doi: 10.3109/03630269.2015.1032415. PMID: 25902180
Matta BN, Musallam KM, Maakaron JE, Koussa S, Taher AT
Hematology 2014 Jun;19(4):196-8. Epub 2013 Nov 25 doi: 10.1179/1607845413Y.0000000120. PMID: 24074485
Musallam KM, Cappellini MD, Taher AT
Curr Opin Hematol 2013 May;20(3):187-92. doi: 10.1097/MOH.0b013e32835f5a5c. PMID: 23426199

Diagnosis

Gumus E, Abbasoglu O, Tanyel C, Gumruk F, Ozen H, Yuce A
Pediatr Transplant 2017 May;21(3) Epub 2017 Feb 17 doi: 10.1111/petr.12903. PMID: 28211259
Girard JM, Drevin G, Brasme JF, Pissard S, Reynier P, Simard G, Denis MC
Ann Biol Clin (Paris) 2016 Dec 1;74(6):688-692. doi: 10.1684/abc.2016.1197. PMID: 27848919
Karimi M, Arandi N, Haghpanah S, Ansari S, Azarkeyvan A, Bordbar M, Safaei S
Hemoglobin 2015;39(5):327-9. Epub 2015 Jun 26 doi: 10.3109/03630269.2015.1057735. PMID: 26114738
Shamoon RP, Al-Allawi NA, Cappellini MD, Di Pierro E, Brancaleoni V, Granata F
Hemoglobin 2015;39(3):178-83. Epub 2015 Apr 22 doi: 10.3109/03630269.2015.1032415. PMID: 25902180
Musallam KM, Cappellini MD, Taher AT
Curr Opin Hematol 2013 May;20(3):187-92. doi: 10.1097/MOH.0b013e32835f5a5c. PMID: 23426199

Therapy

Gumus E, Abbasoglu O, Tanyel C, Gumruk F, Ozen H, Yuce A
Pediatr Transplant 2017 May;21(3) Epub 2017 Feb 17 doi: 10.1111/petr.12903. PMID: 28211259
Karimi M, Zarei T, Haghpanah S, Moghadam M, Ebrahimi A, Rezaei N, Heidari G, Vazin A, Khavari M, Miri HR
J Pediatr Hematol Oncol 2017 May;39(4):e171-e176. doi: 10.1097/MPH.0000000000000779. PMID: 28121747
Karimi M, Arandi N, Haghpanah S, Ansari S, Azarkeyvan A, Bordbar M, Safaei S
Hemoglobin 2015;39(5):327-9. Epub 2015 Jun 26 doi: 10.3109/03630269.2015.1057735. PMID: 26114738
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
Musallam KM, Cappellini MD, Taher AT
Curr Opin Hematol 2013 May;20(3):187-92. doi: 10.1097/MOH.0b013e32835f5a5c. PMID: 23426199

Prognosis

Farashi S, Bayat N, Faramarzi Garous N, Ashki M, Montajabi Niat M, Vakili S, Imanian H, Zeinali S, Najmabadi H, Azarkeivan A
Hemoglobin 2015;39(3):201-6. Epub 2015 Jun 18 doi: 10.3109/03630269.2015.1027914. PMID: 26084319
El-Beshlawy A, El-Ghamrawy M, EL-Ela MA, Said F, Adolf S, Abdel-Razek AR, Magdy RI, Abdel-Salam A
Ann Hematol 2014 Dec;93(12):2045-50. Epub 2014 Jul 27 doi: 10.1007/s00277-014-2154-5. PMID: 25062719
Musallam KM, Motta I, Salvatori M, Fraquelli M, Marcon A, Taher AT, Cappellini MD
Blood Cells Mol Dis 2012 Oct 15-Dec 15;49(3-4):136-9. Epub 2012 Jun 21 doi: 10.1016/j.bcmd.2012.06.001. PMID: 22727143
Mokhtar GM, Tantawy AA, Adly AA, Ismail EA
Hemoglobin 2011;35(4):382-405. doi: 10.3109/03630269.2011.598985. PMID: 21797705
Kanavaki I, Makrythanasis P, Lazaropoulou C, Tsironi M, Kattamis A, Rombos I, Papassotiriou I
Blood Cells Mol Dis 2009 Nov-Dec;43(3):230-4. Epub 2009 Aug 4 doi: 10.1016/j.bcmd.2009.06.002. PMID: 19654073

Clinical prediction guides

Amoozgar H, Zeighami S, Haghpanah S, Karimi M
Hematology 2017 Jan;22(1):25-29. Epub 2016 Sep 20 doi: 10.1080/10245332.2016.1226699. PMID: 27650671
Girard JM, Drevin G, Brasme JF, Pissard S, Reynier P, Simard G, Denis MC
Ann Biol Clin (Paris) 2016 Dec 1;74(6):688-692. doi: 10.1684/abc.2016.1197. PMID: 27848919
Miri-Moghaddam E, Bahrami S, Naderi M, Bazi A, Karimipoor M
Hemoglobin 2016 Jun;40(3):173-8. doi: 10.3109/03630269.2016.1167735. PMID: 27117567
Karimi M, Arandi N, Haghpanah S, Ansari S, Azarkeyvan A, Bordbar M, Safaei S
Hemoglobin 2015;39(5):327-9. Epub 2015 Jun 26 doi: 10.3109/03630269.2015.1057735. PMID: 26114738
Musallam KM, Cappellini MD, Taher AT
Curr Opin Hematol 2013 May;20(3):187-92. doi: 10.1097/MOH.0b013e32835f5a5c. PMID: 23426199

Recent systematic reviews

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
Haghpanah S, Karimi M
Blood Coagul Fibrinolysis 2012 Apr;23(3):212-7. doi: 10.1097/MBC.0b013e3283502975. PMID: 22322139
Eldor A, Rachmilewitz EA
Blood 2002 Jan 1;99(1):36-43. PMID: 11756150

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