Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
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.
- 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
- Diamond-Blackfan 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
- Elevated red cell adenosine deaminase activity
- Partial duplication of thumb phalanx
- Microcephaly
- Skin basal cell carcinoma
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Autosomal dominant inheritance
Individuals whose clinical findings are consistent with the specific disorder.
Not provided
Not provided
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