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GTR Home > Tests > Diamond-Blackfan anemia 1, 105650, Autosomal dominant; DBA1 (Blackfan-Diamond anemia) (MLPA)

Diamond-Blackfan anemia 1, 105650, Autosomal dominant; DBA1 (Blackfan-Diamond anemia) (MLPA)

  • GTR Test IDHelp: GTR000577020.1
  • Last updated: 2022-05-14
  • Annual Review past due read more
  • Test version history

Clinical testHelp for Diamond-Blackfan anemia 1
Offered by Intergen

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Macrocytic anemia
  • Coarctation of aorta
  • Colon cancer
  • Cleft upper lip
  • Fetal growth restriction
  • Congestive heart failure
  • Atrial septal defect
  • Ventricular septal defect
  • Hypertelorism
  • Micrognathia
  • Myelodysplasia
  • Osteosarcoma
  • Pallor
  • Retrognathia
  • Strabismus
  • Thrombocytopenia
  • Tricuspid stenosis
  • Spina bifida occulta
  • Premature birth
  • Webbed neck
  • Parietal foramina
  • Persistence of hemoglobin F
  • High palate
  • Triphalangeal thumb
  • Renal hypoplasia
  • Delayed cranial suture closure
  • Increased mean corpuscular volume
  • Short stature
  • Downslanted palpebral fissures
  • Narrow chest
  • Short thumb
  • Short neck
  • Global developmental delay
  • Epicanthus
  • Hypoplasia of the radius
  • Thrombocytosis
  • Neutropenia
  • Reticulocytopenia
  • Congenital hypoplastic anemia
  • Primary congenital glaucoma
  • 11 pairs of ribs
  • Depressed nasal ridge
  • Small thenar eminence
  • Hypoplastic ilia
  • Failure to thrive
  • Bifid thoracic vertebrae
  • Hypoplastic sacral vertebrae
  • Hypoplastic coccygeal vertebrae
  • Cleft palate
  • Absent thumb
  • Intellectual disability
  • Partial duplication of thumb phalanx
  • Microcephaly
  • Skin basal cell carcinoma
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Inheritance pattern

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Autosomal dominant inheritance

Conditions tested

Target population

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Diamond-Blackfan anemia 1, 105650, Autosomal dominant; DBA1 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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