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Diagnosis

CLASSIC DIAGNOSTIC CRITERIA

  • Age less than 1 year at presentation of anemia

  • Anemia defined as low hemoglobin for age with macrocytic (large red cell size) or normocytic (normal red cell size) cells with no other significant blood abnormalities (relatively normal white cell count and platelet numbers)

  • Reticulocytopenia (low numbers of early red cells called reticulocytes)

  • Normal bone marrow cellularity with a selective deficiency of early red cells

new
diagnostic Criteria

Major

  • Positive family history

  • Ribosomal protein (RP) gene mutation or mutation in GATA1, TSR2, or HEATR3 identified

​Minor

  • Elevated erythrocyte adenosine deaminase activity (eADA; a red cell enzyme found to be elevated in 85% of patients)

  • Presence of birth defects (found in about 50% of patients)

  • Elevated fetal hemoglobin (a type of hemoglobin seen in infancy but found in patients after infancy)

  • No evidence of another inherited bone marrow failure syndrome

Diamond Blackfan anemia syndrome

Diamond Blackfan Anemia has been renamed Diamond Blackfan Anemia Syndrome (DBAS) to include patients who are genetically diagnosed, but do not have anemia.

What causes DBAs?​

DBAS results from a problem within the early immature red cells that makes them highly sensitive to death by apoptosis (which is a specific type of programmed cell death). It has been shown that DBAS is caused by mutations in ribosomal protein (or RP) genes. The first DBAS gene identified was RPS19, one of the 80 known RP genes. The existence of mutations in genes encoding similar ribosomal proteins and other non-ribosomal protein gene mutations (such as GATA1, TSR2 and HEATR3) has been confirmed. The functions of these proteins in DBAS are not yet well understood. Studies are underway to identify gene mutations in the approximately 15-20% of patients with DBA for whom no genetic cause has been identified.

Diamond Blackfan anemia syndrome is the preferred name for this disorder but other terms for DBA have included:

 

• Blackfan Diamond anemia
• congenital pure red cell aplasia
• congenital hypoplastic anemia

INCIDENCE

Incidence is estimated at 5-10 cases for every million children born in the United States and Canada.  We estimate about 20-40 new cases per year in the United States and Canada.  There are an equal number of males and females with the disease.  50% of children usually present with anemia by 2-3 months of age, with 93% presenting by one year of age.  However some patients present as children, adolescents or even as adults.

It is important to note that more and more adults are being diagnosed with DBAS:

 

  • Some patients may present with mild anemia which becomes more severe later in life.

  • Sometimes a parent is diagnosed after his/her child is diagnosed with DBAS and the gene is found in the parent as well.

  • Family members without anemia may have birth defects and then be found to have the DBAS gene once their relative is diagnosed with DBAS.

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