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Sickle cell-hemoglobin D disease

MedGen UID:
452366
Concept ID:
C0272084
Disease or Syndrome
Synonyms: Hemoglobin SD; Sickle cell-hemoglobin d disease syndrome
SNOMED CT: Sickle cell hemoglobin D (25472008); Sickle cell-hemoglobin D disease (25472008); Hemoglobin S-D disease (25472008); HbS-HbD disease (25472008); Double heterozygous for Hb S + Hb D Punjab (25472008); Hemoglobin S/D Punjab disease (25472008); Sickle cell anemia with hemoglobin D disease (25472008)
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).
 
Monarch Initiative: MONDO:0016670
Orphanet: ORPHA251370

Definition

A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln. [from ORDO]

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Professional guidelines

Recent clinical studies

Etiology

Hamidieh AA, Jalili M, Khojasteh O, Ghavamzadeh A
J Pediatr Hematol Oncol 2010 Jul;32(5):397-9. doi: 10.1097/MPH.0b013e3181df614b. PMID: 20502357

Diagnosis

Aflatouni MM, Malek M
Acta Med Iran 1978;21(2):153-60. PMID: 754514
RESTREPO AM, LONDONO OG
Ann Intern Med 1965 Jun;62:1301-6. doi: 10.7326/0003-4819-62-6-1301. PMID: 14295513

Prognosis

Hamidieh AA, Jalili M, Khojasteh O, Ghavamzadeh A
J Pediatr Hematol Oncol 2010 Jul;32(5):397-9. doi: 10.1097/MPH.0b013e3181df614b. PMID: 20502357

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    Clinical resources

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    • 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.

    Curated

    • ACMG ACT, 2012
      American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Sickle Cell Disease, 2012

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