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Sickle Beta Plus Thalassemia

MedGen UID:
476098
•Concept ID:
C3274465
•
Disease or Syndrome
Synonym: Sickle B+ Thalassemia

Definition

A mild form of sickle cell thalassemia characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells. It is characterized by the presence of small red blood cells and mild anemia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSickle Beta Plus Thalassemia

Professional guidelines

PubMed

Potential for a large-scale newborn screening strategy for sickle cell disease in Mali: A comparative diagnostic performance study of two rapid diagnostic tests (SickleScan® and HemotypeSC®) on cord blood.
Guindo A, Cisse Z, Keita I, Desmonde S, Sarro YDS, Touré BA, Baraika MA, Tessougué O, Guindo P, Coulibaly M, Traore O, Sylla N, Diassana M, Saye A, Picot V, Lauressergues E, Leroy V
Br J Haematol 2024 Jan;204(1):337-345. Epub 2023 Sep 20 doi: 10.1111/bjh.19108. PMID: 37728227

Recent clinical studies

Etiology

A Phase 3 Trial of Luspatercept in Patients with Transfusion-Dependent β-Thalassemia.
Cappellini MD, Viprakasit V, Taher AT, Georgiev P, Kuo KHM, Coates T, Voskaridou E, Liew HK, Pazgal-Kobrowski I, Forni GL, Perrotta S, Khelif A, Lal A, Kattamis A, Vlachaki E, Origa R, Aydinok Y, Bejaoui M, Ho PJ, Chew LP, Bee PC, Lim SM, Lu MY, Tantiworawit A, Ganeva P, Gercheva L, Shah F, Neufeld EJ, Thompson A, Laadem A, Shetty JK, Zou J, Zhang J, Miteva D, Zinger T, Linde PG, Sherman ML, Hermine O, Porter J, Piga A; BELIEVE Investigators
N Engl J Med 2020 Mar 26;382(13):1219-1231. doi: 10.1056/NEJMoa1910182. PMID: 32212518
Marked variation in prevalence of malaria-protective human genetic polymorphisms across Uganda.
Walakira A, Tukwasibwe S, Kiggundu M, Verra F, Kakeeto P, Ruhamyankaka E, Drakeley C, Dorsey G, Kamya MR, Nsobya SL, Rosenthal PJ
Infect Genet Evol 2017 Nov;55:281-287. Epub 2017 Sep 19 doi: 10.1016/j.meegid.2017.09.021. PMID: 28939159Free PMC Article
Risk Factors for Attention and Behavioral Issues in Pediatric Sickle Cell Disease.
Lance EI, Comi AM, Johnston MV, Casella JF, Shapiro BK
Clin Pediatr (Phila) 2015 Oct;54(11):1087-93. Epub 2015 Jul 6 doi: 10.1177/0009922815594356. PMID: 26149844Free PMC Article
Sickle cell disease and pregnancy.
Koshy M
Blood Rev 1995 Sep;9(3):157-64. doi: 10.1016/0268-960x(95)90021-7. PMID: 8563517
Interaction between HBS-beta-o-thalassemia and alpha-thalassemia.
Steinberg MH, Coleman MB, Adams JG, Rosenstock W
Am J Med Sci 1984 Dec;288(5):195-9. doi: 10.1097/00000441-198412000-00001. PMID: 6083725

Diagnosis

Potential for a large-scale newborn screening strategy for sickle cell disease in Mali: A comparative diagnostic performance study of two rapid diagnostic tests (SickleScan® and HemotypeSC®) on cord blood.
Guindo A, Cisse Z, Keita I, Desmonde S, Sarro YDS, Touré BA, Baraika MA, Tessougué O, Guindo P, Coulibaly M, Traore O, Sylla N, Diassana M, Saye A, Picot V, Lauressergues E, Leroy V
Br J Haematol 2024 Jan;204(1):337-345. Epub 2023 Sep 20 doi: 10.1111/bjh.19108. PMID: 37728227
Risk Factors for Attention and Behavioral Issues in Pediatric Sickle Cell Disease.
Lance EI, Comi AM, Johnston MV, Casella JF, Shapiro BK
Clin Pediatr (Phila) 2015 Oct;54(11):1087-93. Epub 2015 Jul 6 doi: 10.1177/0009922815594356. PMID: 26149844Free PMC Article
Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review.
Ashley-Koch A, Yang Q, Olney RS
Am J Epidemiol 2000 May 1;151(9):839-45. doi: 10.1093/oxfordjournals.aje.a010288. PMID: 10791557
Logarithmic quantitation model using serum ferritin to estimate iron overload in secondary haemochromatosis.
Güngör T, Rohrbach E, Solem E, Kaltwasser JP, Kornhuber B
Arch Dis Child 1996 Apr;74(4):323-7. doi: 10.1136/adc.74.4.323. PMID: 8669933Free PMC Article
Reverse dot-blot detection of the African-American beta-thalassemia mutations.
Sutcharitchan P, Saiki R, Huisman TH, Kutlar A, McKie V, Erlich H, Embury SH
Blood 1995 Aug 15;86(4):1580-5. PMID: 7632967

Therapy

Multifocal Osteonecrosis in a 3-Year-old Child With Sickle Beta Plus Thalassemia.
Bhasin N, Price N, Desoky SM
J Pediatr Hematol Oncol 2022 Mar 1;44(2):e428-e430. doi: 10.1097/MPH.0000000000002155. PMID: 33974587
Successful mismatched hematopoietic stem cell transplantation for pediatric hemoglobinopathy by using ATG and post-transplant cyclophosphamide.
Oostenbrink LVE, Pool ES, Jol-van der Zijde CM, Jansen-Hoogendijk AM, Vervat C, van Halteren AGS, Bredius RGM, Smiers FJW, van Tol MJD, Schilham MW, Lankester AC, Mohseny AB
Bone Marrow Transplant 2021 Sep;56(9):2203-2211. Epub 2021 May 3 doi: 10.1038/s41409-021-01302-0. PMID: 33941871
A Phase 3 Trial of Luspatercept in Patients with Transfusion-Dependent β-Thalassemia.
Cappellini MD, Viprakasit V, Taher AT, Georgiev P, Kuo KHM, Coates T, Voskaridou E, Liew HK, Pazgal-Kobrowski I, Forni GL, Perrotta S, Khelif A, Lal A, Kattamis A, Vlachaki E, Origa R, Aydinok Y, Bejaoui M, Ho PJ, Chew LP, Bee PC, Lim SM, Lu MY, Tantiworawit A, Ganeva P, Gercheva L, Shah F, Neufeld EJ, Thompson A, Laadem A, Shetty JK, Zou J, Zhang J, Miteva D, Zinger T, Linde PG, Sherman ML, Hermine O, Porter J, Piga A; BELIEVE Investigators
N Engl J Med 2020 Mar 26;382(13):1219-1231. doi: 10.1056/NEJMoa1910182. PMID: 32212518
Transfusional iron overload and iron chelation therapy in thalassemia major and sickle cell disease.
Marsella M, Borgna-Pignatti C
Hematol Oncol Clin North Am 2014 Aug;28(4):703-27, vi. doi: 10.1016/j.hoc.2014.04.004. PMID: 25064709
Bone marrow transplant for sickle cell disease--the dilemma.
Davies SC
Blood Rev 1993 Mar;7(1):4-9. doi: 10.1016/0268-960x(93)90018-y. PMID: 8467231

Prognosis

Potential for a large-scale newborn screening strategy for sickle cell disease in Mali: A comparative diagnostic performance study of two rapid diagnostic tests (SickleScan® and HemotypeSC®) on cord blood.
Guindo A, Cisse Z, Keita I, Desmonde S, Sarro YDS, Touré BA, Baraika MA, Tessougué O, Guindo P, Coulibaly M, Traore O, Sylla N, Diassana M, Saye A, Picot V, Lauressergues E, Leroy V
Br J Haematol 2024 Jan;204(1):337-345. Epub 2023 Sep 20 doi: 10.1111/bjh.19108. PMID: 37728227
Pediatric hematology providers on referral for transplant evaluation for sickle cell disease: a regional perspective.
Mikles B, Bhatia M, Oyeku SO, Jin Z, Green NS
J Pediatr Hematol Oncol 2014 Oct;36(7):566-71. doi: 10.1097/MPH.0000000000000147. PMID: 24633300Free PMC Article
R2* magnetic resonance imaging of the liver in patients with iron overload.
Hankins JS, McCarville MB, Loeffler RB, Smeltzer MP, Onciu M, Hoffer FA, Li CS, Wang WC, Ware RE, Hillenbrand CM
Blood 2009 May 14;113(20):4853-5. Epub 2009 Mar 4 doi: 10.1182/blood-2008-12-191643. PMID: 19264677Free PMC Article
Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review.
Ashley-Koch A, Yang Q, Olney RS
Am J Epidemiol 2000 May 1;151(9):839-45. doi: 10.1093/oxfordjournals.aje.a010288. PMID: 10791557
Bone marrow transplant for sickle cell disease--the dilemma.
Davies SC
Blood Rev 1993 Mar;7(1):4-9. doi: 10.1016/0268-960x(93)90018-y. PMID: 8467231

Clinical prediction guides

Potential for a large-scale newborn screening strategy for sickle cell disease in Mali: A comparative diagnostic performance study of two rapid diagnostic tests (SickleScan® and HemotypeSC®) on cord blood.
Guindo A, Cisse Z, Keita I, Desmonde S, Sarro YDS, Touré BA, Baraika MA, Tessougué O, Guindo P, Coulibaly M, Traore O, Sylla N, Diassana M, Saye A, Picot V, Lauressergues E, Leroy V
Br J Haematol 2024 Jan;204(1):337-345. Epub 2023 Sep 20 doi: 10.1111/bjh.19108. PMID: 37728227
Pediatric hematology providers on referral for transplant evaluation for sickle cell disease: a regional perspective.
Mikles B, Bhatia M, Oyeku SO, Jin Z, Green NS
J Pediatr Hematol Oncol 2014 Oct;36(7):566-71. doi: 10.1097/MPH.0000000000000147. PMID: 24633300Free PMC Article
A dose-escalation phase IIa study of 2,2-dimethylbutyrate (HQK-1001), an oral fetal globin inducer, in sickle cell disease.
Kutlar A, Reid ME, Inati A, Taher AT, Abboud MR, El-Beshlawy A, Buchanan GR, Smith H, Ataga KI, Perrine SP, Ghalie RG
Am J Hematol 2013 Nov;88(11):E255-60. Epub 2013 Oct 3 doi: 10.1002/ajh.23533. PMID: 23828223
R2* magnetic resonance imaging of the liver in patients with iron overload.
Hankins JS, McCarville MB, Loeffler RB, Smeltzer MP, Onciu M, Hoffer FA, Li CS, Wang WC, Ware RE, Hillenbrand CM
Blood 2009 May 14;113(20):4853-5. Epub 2009 Mar 4 doi: 10.1182/blood-2008-12-191643. PMID: 19264677Free PMC Article
Hereditary anaemias and iron deficiency in a tribal population (the Baiga) of central India.
Reddy PH, Petrou M, Reddy PA, Tiwary RS, Modell B
Eur J Haematol 1995 Aug;55(2):103-9. doi: 10.1111/j.1600-0609.1995.tb01818.x. PMID: 7628584

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