Diamond-Blackfan anemia

Información en español Title

Other Names:

DBA; Anemia Diamond Blackfan type; Blackfan Diamond syndrome; DBA; Anemia Diamond Blackfan type; Blackfan Diamond syndrome; BDS; Anemia congenital erythroid hypoplastic; Aregenerative anemia chronic congenital; Erythrogenesis imperfecta; Red cell aplasia, pure hereditary; Congenital hypoplastic anemia See More

Categories:

Blood Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Blood Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Metabolic disorders; Mouth Diseases; Rare Cancers See More

Summary Summary

Diamond-Blackfan anemia 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.^[1] 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.^[2] 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 and GATA1 genes. 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.^[3]^[4] 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.^[3] Treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation.^[1]

Last updated: 2/17/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Arrhythmia	Very frequent (present in 80%-99% of cases)
Pallor	Very frequent (present in 80%-99% of cases)
Abnormality of the genital system	Frequent (present in 30%-79% of cases)
Abnormality of the hand	Frequent (present in 30%-79% of cases)
Abnormality of the urinary system	Frequent (present in 30%-79% of cases)
Delayed puberty	Frequent (present in 30%-79% of cases)
Fatigue	Frequent (present in 30%-79% of cases)
Macrocytic anemia	Frequent (present in 30%-79% of cases)
Migraine	Frequent (present in 30%-79% of cases)
Acute leukemia	Occasional (present in 5%-29% of cases)
Depressed nasal ridge	Occasional (present in 5%-29% of cases)
Intellectual disability	Occasional (present in 5%-29% of cases)
Short nose	Occasional (present in 5%-29% of cases)
Thick lower lip vermilion	Occasional (present in 5%-29% of cases)
11 pairs of ribs	-
Absent thumb	-
Atrial septal defect	-
Autosomal dominant inheritance	-
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	-
Infantile onset	-
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	-

Last updated: 8/1/2017

Inheritance Inheritance

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.^[3]

Last updated: 2/17/2016

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment

Some people 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.^[3]

Last updated: 2/18/2016

Management Guidelines

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Diamond-Blackfan anemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Patient Registry

The Diamond Blackfan Anemia Registry (DBAR) is a research organization dedicated to acquiring, analyzing and disseminating information on Diamond Blackfan anemia to affected individuals, their families and medical professionals.

Diamond Blackfan Anemia Registry (DBAR)
269-01 76th Avenue
New Hyde Park, NY 11040
Toll-free: 1-888-884-DBAR
E-mail: eatsidaf@lij.edu
Web site: http://www.dbar.org/

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Daniella Maria Arturi Foundation
PO Box 1434
Mattituck, NY 11952
E-mail: daniellafoundation@dmaf.org
Website: http://diamondblackfananemia.org
Diamond Blackfan Anemia Foundation, Inc.
P.O. Box 1092
West Seneca, NY 14224
E-mail: dbafoundation@juno.com
Website: http://www.dbafoundation.org/
European Network for Rare and Congenital Anaemias (ENERCA)
University of Barcelona
Red Cell Pathology Unit
C/Villarroel, 170 - 08036
Barcelona
España
Telephone: (34) 93 451 5950
Fax: (34) 93 227 1764
E-mail: enerca@enerca.org
Website: http://www.enerca.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Financial Resources

National Organization for Rare Disorders (NORD) has Disease-Specific Assistance Programs designed to help patients with out-of-pocket costs such as monthly insurance premiums or deductibles. In addition, some programs may provide financial assistance for additional expenses related to a patient's diagnosis such as travel to see a specialist.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The Children's Hospital Boston provides an information page on Diamond-Blackfan anemia. Click on the link above to access this information.
You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
Genetics Home Reference (GHR) contains information on Diamond-Blackfan anemia. This website is maintained by the National Library of Medicine.
The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Diamond-Blackfan anemia. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Congenital anomalies, mode of inheritance, cancer predisposition, and pregnancy in DBA are reviewed in this journal article entitled, Diamond Blackfan anaemia: diagnostics and treatment recommendations from an international clinical consensus conference . The recommendations regarding the diagnosis and management described in this report are the result of deliberations and discussions at an international consensus conference.

News & Events News & Events

News

IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Other than bone marrow transplantation is there any other remedy for Diamond-Blackfan anemia? See answer
What is the chance that a sibling of a child with Diamond-Blackfan anemia will also have the condition in a family with no prior history of Diamond-Blackfan anemia? See answer

Have a question? Contact a GARD Information Specialist.

References References

Diamond Blackfan Anemia. Centers for Disease Control and Prevention (CDC). 2015; http://www.cdc.gov/ncbddd/dba/facts.html. Accessed 12/4/2015.
Diamond-Blackfan anemia. Genetics Home Reference. November 2015; http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia. Accessed 12/3/2015.
Clinton, C & Gazda, HT. Diamond Blackfan Anemia. GeneReviews. 2014; http://www.ncbi.nlm.nih.gov/books/NBK7047/.
Diamond-Blackfan Anemia. Online Mendelian Inheritance in Man (OMIM). December 5, 2006; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105650. Accessed 10/15/2008.