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Sickle cell-thalassemia disease

MedGen UID:
389211
•Concept ID:
C2242796
•
Disease or Syndrome
Synonyms: Hemoglobin S-F disease; Microdrepanocytic disease; Microdrepanocytosis; Sickle cell thalassemia disease; Sickle Cell-Thalassemia; Thalassemia-hemoglobin S disease
SNOMED CT: Sickle cell thalassemia disease (36472007); Hemoglobin S-F disease (36472007); Thalassemia-hemoglobin S disease (36472007); Sickle cell-thalassemia disease (36472007); Microdrepanocytic disease (36472007); Microdrepanocytosis (36472007)

Definition

Hemolytic anemia, in which patients are heterozygous for both the sickle cell gene and a thalassemia gene. [from NCI]

Professional guidelines

PubMed

Molecular prevalence and genotypes of human pegivirus-1 (HPgV-1) and SENV-like viruses among multiply transfused patients with beta-thalassemia.
Dos Santos Bezerra R, Santos EV, Maraninchi Silveira R, Silva Pinto AC, Covas DT, Kashima S, Slavov SN
Transfus Apher Sci 2020 Apr;59(2):102697. Epub 2019 Dec 13 doi: 10.1016/j.transci.2019.102697. PMID: 31859221
The impact of iron overload and its treatment on quality of life: results from a literature review.
Abetz L, Baladi JF, Jones P, Rofail D
Health Qual Life Outcomes 2006 Sep 28;4:73. doi: 10.1186/1477-7525-4-73. PMID: 17007645Free PMC Article
Approach to management of fever and infection in patients with primary bone marrow failure and hemoglobinopathies.
Weinberger M
Hematol Oncol Clin North Am 1993 Aug;7(4):865-85. PMID: 8354659

Recent clinical studies

Therapy

Nonmyeloablative HLA-matched sibling allogeneic hematopoietic stem cell transplantation for severe sickle cell phenotype.
Hsieh MM, Fitzhugh CD, Weitzel RP, Link ME, Coles WA, Zhao X, Rodgers GP, Powell JD, Tisdale JF
JAMA 2014 Jul 2;312(1):48-56. doi: 10.1001/jama.2014.7192. PMID: 25058217Free PMC Article

Clinical prediction guides

THE FIRST OBSERVATION OF HOMOZYGOUS HEMOGLOBIN S-ALPHA THALASSEMIA DISEASE AND TWO TYPES OF SICKLE CELL THALASSEMIA DISEASE: (A) SICKLE CELL-ALPHA THALASSEMIA DISEASE, (B) SICKLE CELL-BETA THALASSEMIA DISEASE.
AKSOY M
Blood 1963 Dec;22:757-69. PMID: 14084634

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