Diamond-Blackfan anemia natural history, complications and prognosis

Diamond-Blackfan anemia Microchapters
Home
Patient Information
Overview
Historical Perspective
Pathophysiology
Causes
Differentiating Diamond-Blackfan anemia from other Diseases
Epidemiology and Demographics
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
Chest X Ray
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Diamond-Blackfan anemia natural history, complications and prognosis On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Diamond-Blackfan anemia natural history, complications and prognosis All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Diamond-Blackfan anemia natural history, complications and prognosis
CDC on Diamond-Blackfan anemia natural history, complications and prognosis
Diamond-Blackfan anemia natural history, complications and prognosis in the news
Blogs on Diamond-Blackfan anemia natural history, complications and prognosis
Directions to Hospitals Treating Diamond-Blackfan anemia
Risk calculators and risk factors for Diamond-Blackfan anemia natural history, complications and prognosis

Overview

If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].

OR

Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].

OR

Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately

Diamond-Blackfan anemia natural history, complications and prognosis

Natural history The severity of Diamond-Blackfan anemia may vary, even within the same family.

• Classic DBA:
  • Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).
  • The symptomatic onset of Diamond black-fan anemia becomes apparent during the first year of life
• Approximately half of DBA cases have Congenital malformations, in particular craniofacial, upper-limb, heart, and genitourinary malformations:(observed in ~30%-50%):
  • Microcephaly
  • low frontal hairline
  • Wide-set eyes (hypertelorism)
  • Droopy eyelids (ptosis)
  • Broad, flat bridge of the nose
  • Small, low-set ears
  • Small lower jaw (micrognathia)
  • Cleft palate
  • Cleft lip
  • Short, webbed neck
  • Smaller and higher shoulder blades than usual
  • Malformed or absent thumbs
• All diagnostic criteria are met.

• Non-classic DBA:
  • presents with mild or absent anemia with only subtle indications of erythroid abnormalities such as macrocytosis, elevated ADA, and/or elevated HbF concentration
  • Have mild anemia beginning later in childhood or in adulthood, while others have some of the physical features but no bone marrow problems.
  • Minimal or no evidence of congenital anomalies or short stature