What are the other Names for this Condition? (Also known as/Synonyms)

• Anemia Congenital Erythroid Hypoplastic
• Chronic Congenital Aregenerative Anemia
• Pure Hereditary Red Cell Aplasia

What is Diamond-Blackfan Anemia? (Definition/Background Information)

• Diamond-Blackfan Anemia (DBA) is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells. It is usually diagnosed during the first year of life
• Individuals with Diamond-Blackfan Anemia may also have physical abnormalities of the face head, upper limbs, hands (mostly involving the thumbs), genitalia, urinary tract, and heart. Some affected individuals also have short stature
• Diamond-Blackfan Anemia is caused by a mutation in a number of different gene(s), some of which have been identified and some of which have not. Identified genes include but are not limited to:
  • RPS19
  • RPL5
  • RPS10
  • RPL11
  • RPL35A
  • RPS7
  • RPS17
  • RPS24
  • RPS26
  • GATA1
• Different subtypes exist and are divided based on the specific gene mutated; however, they have similar features
  • Patients with mutations in the RPL5 gene have more serious symptoms and about 45% have cleft palate and are smaller than average size
  • Patients with mutations in the RPL11 gene have thumb anomalies more frequently than people with the other types
  • Mutations in the GATA1 gene are associated with severe anemia
• About 45% of people with Diamond-Blackfan Anemia inherit this condition from a parent. Inheritance is typically autosomal dominant, but can rarely be X-linked
• Treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation

(Source: Diamond-Blackfan Anemia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Diamond-Blackfan Anemia? (Age and Sex Distribution)

• Diamond-Blackfan Anemia is a congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Diamond-Blackfan Anemia? (Predisposing Factors)

• A positive family history may be an important risk factor, since Diamond-Blackfan Anemia is an inherited condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Diamond-Blackfan Anemia? (Etiology)

Diamond-Blackfan Anemia is most commonly inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell.

• In some cases, an affected person inherits the mutation from an affected parent. A person with Diamond-Blackfan Anemia has a 50% chance with each pregnancy of passing along the mutated gene to his or her child
• Approximately one-half of affected individuals have inherited their mutation from a parent and about one-half have a new (de novo) mutation
• People with Diamond-Blackfan Anemia may not appear to have a family history of the condition if relatives have very mild signs and symptoms
• In rare cases, Diamond-Blackfan Anemia can be inherited in an X-linked manner

(Source: Diamond-Blackfan Anemia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Diamond-Blackfan Anemia?

The signs and symptoms of Diamond-Blackfan Anemia may include:

• 11 pairs of ribs
• Absent thumb
• Atrial septal defect
• Bifid thoracic vertebrae
• Cleft upper lip
• Coarctation of aorta
• Colon cancer
• Congenital hypoplastic anemia
• Congestive heart failure
• Delayed cranial suture closure
• Downslanted palpebral fissures
• Elevated red cell adenosine deaminase activity
• Failure to thrive
• High palate
• Hypertelorism
• Hypoplasia of the radius
• Hypoplastic coccygeal vertebrae
• Hypoplastic ilia
• Hypoplastic sacral vertebrae
• Intrauterine growth retardation
• Microcephaly
• Micrognathia
• Myelodysplasia
• Narrow chest
• Neutropenia
• Osteosarcoma
• Parietal foramina
• Partial duplication of thumb phalanx
• Premature birth
• Reticulocytopenia
• Retrognathia
• Short neck
• Short thumb
• Strabismus
• Thrombocytopenia
• Thrombocytosis
• Triphalangeal thumb
• Ventricular septal defect
• Webbed neck

Based on the frequency of symptoms observed, the following information may be noted:

Very frequently present symptoms in 80-99% of the cases: Pallor

Frequently present symptoms in 30-79% of the cases:

• Abnormality of the genital system 
• Abnormality of the hand 
• Abnormality of the urinary system 
• Delayed puberty 
• Fatigue                   
• Macrocytic anemia
• Migraine

Occasionally present symptoms in 5-29% of the cases:

• Acute leukemia
• Depressed nasal ridge 
• Intellectual disability 
• Short nose 
• Thick lower lip vermilion

(Source: Diamond-Blackfan Anemia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Diamond-Blackfan Anemia Diagnosed?

Diamond-Blackfan Anemia is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Diamond-Blackfan Anemia?

The complications of Diamond-Blackfan Anemia may include:

• Higher susceptibility to various cancer
• Intellectual impairment

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Diamond-Blackfan Anemia Treated?

Some people with Diamond-Blackfan Anemia have such mild signs and symptoms that they do not require treatment.

• The majority of people who do require treatment because of low red blood cell counts are prescribed corticosteroids and have blood transfusions
• Corticosteroid treatment is recommended in children over 1 year of age; this treatment can initially improve the red blood count in approximately 80% of people with Diamond-Blackfan Anemia
• Bone marrow/stem cell transplantation might also be considered and is the only curative treatment for the anemia; however, patients should continue to be followed because they are at increased risk for leukemia and cancer
• Results are better for children younger than ten years of age if transplanted using an human leukocyte antigen (HLA)-matched sib

(Source: Diamond-Blackfan Anemia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Diamond-Blackfan Anemia be Prevented?

Currently, Diamond-Blackfan Anemia may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Diamond-Blackfan Anemia? (Outcomes/Resolutions)  

• The prognosis of Diamond-Blackfan Anemia is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Diamond-Blackfan Anemia:

Diamond-Blackfan Anemia is also known by the following terms:

• Anemia, Diamond Blackfan type
• Blackfan Diamond Syndrome (BDS)
• BDS (Blackfan Diamond Syndrome)
• Congenital Hypoplastic Anemia
• DBA (Diamond-Blackfan Anemia)
• Erythrogenesis Imperfecta

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/