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; Aase syndrome; Blackfan-Diamond anemia; Aase-Smith II syndrome; Congenital PRCA; Congenital hypoplastic anemia, Blackfan-Diamond type; Congenital pure red cell aplasia 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.^[1] Symptoms may include a shortage of red blood cells (anemia), physical abnormalities such as small head size (microcephaly) characteristic facial features, cleft palate, cleft lip, short and webbed neck, small shoulder blades, and defects of the hands (mostly of the thumbs), as well as defects of the genitalia, urinary tract, eyes and heart. In some cases there is also short stature.^[2]

Diamond-Blackfan anemia is caused by mutations in several genes, 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] Most cases are isolated, but 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] The severity of the disease is very varied. People with Diamond-Blackfan anemia may have an increased risk of having diseases related to a bone marrow defect, such as myelodysplastic syndrome, and certain cancers.^[3]^[2] Adults with the disease may have hormonal problems in later life, specially adrenal insufficiency, hypogonadism and hypothyroidism.^[5]

Last updated: 12/1/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Elevated red cell adenosine deaminase level		0030270
Pure red cell aplasia		0012410
30%-79% of people have these symptoms
Erythroid hypoplasia		0012133
Increased mean corpuscular volume		0005518
Lethargy		0001254
Macrocytic dyserythropoietic anemia		0005532
Pallor		0000980
Persistence of hemoglobin F		0011904
Reticulocytopenia		0001896
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518
5%-29% of people have these symptoms
Abnormality of the thenar eminence		0001227
Absent thumb	Absent thumbs	0009777
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Cleft lip		0410030
Cleft soft palate		0000185
High palate	Elevated palate Increased palatal height [ more ]	0000218
Horseshoe kidney	Horseshoe kidneys	0000085
Hypospadias		0000047
Leukopenia	Decreased blood leukocyte number Low white blood cell count [ more ]	0001882
Myelodysplasia		0002863
Neurodevelopmental delay		0012758
Normochromic anemia		0001895
Partial duplication of thumb phalanx	Partial duplication of the thumb bones	0009944
Radial artery aplasia		0020118
Renal agenesis	Absent kidney Missing kidney [ more ]	0000104
Short neck	Decreased length of neck	0000470
Short stature	Decreased body height Small stature [ more ]	0004322
Short thumb	Short thumbs Small thumbs [ more ]	0009778
Sprengel anomaly	High shoulder blade	0000912
Triphalangeal thumb	Finger-like thumb	0001199
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Webbed neck	Neck webbing	0000465
1%-4% of people have these symptoms
Acute myeloid leukemia		0004808
Adenocarcinoma of the colon		0040276
Coarctation of aorta	Narrowing of aorta Narrowing of the aorta [ more ]	0001680
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Developmental cataract	Clouding of the lens of the eye at birth	0000519
Developmental glaucoma		0001087
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Low anterior hairline	Low frontal hairline Low-set frontal hairline [ more ]	0000294
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Malignant genitourinary tract tumor		0006758
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Microtia	Small ears Underdeveloped ears [ more ]	0008551
Neutropenia	Low blood neutrophil count Low neutrophil count [ more ]	0001875
Nonimmune hydrops fetalis		0001790
Osteosarcoma	Bone cell cancer	0002669
Ptosis	Drooping upper eyelid	0000508
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Thrombocytopenia	Low platelet count	0001873
Thrombocytosis	Increased number of platelets in blood	0001894
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2020

Do you have updated information on this disease? We want to hear from you.

Cause Cause

Diamond-Blackfan anemia (DBA) can be caused by mutations in the RPS19 gene (25% of the cases) or in the following genes: RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS24, or RPS26 genes (25%-35% of the cases). In very rare cases, the disease is caused by a mutation in the GATA1 gene. In the remaining 40%-50% of the cases the cause is unknown.^[3]^[2]

The RPS19, RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS24, and RPS26 genes provide instructions for making several of the different ribosomal proteins. Ribosomes are components of cellular structure that process the cell's genetic instructions to create proteins. Each ribosome is made up of two parts (subunits) called the large and small subunits. The RPL5, RPL11, and RPL35A genes provide instructions for making ribosomal proteins found in the large subunit. The ribosomal proteins produced from the RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 genes are among those found in the small subunit. Some ribosomal proteins are involved in the assembly or stability of ribosomes and others help building new proteins or have other functions. A shortage of functioning ribosomal proteins may increase the self-destruction of blood-forming cells in the bone marrow, resulting in anemia.^[3]^[2]

According to the mutated gene people may have some differences in their symptoms:^[6]^[7]

People who have mutation in the RPL5 gene appear to have more severe problems than people with mutations in the RPL11 and RPS19 genes.
People with mutations in the RPL5 gene have more chances of having cleft lip and/or cleft palate defects.
People with mutations in the RPL11 gene have more thumb abnormalities
People with mutations in the GATA1 gene may have a more severe anemia.

In about 30% of people diagnosed with Diamond-Blackfan anemia no mutation is found in any of the known DBA-linked genes.^[6]

Last updated: 12/1/2017

Inheritance Inheritance

Diamond-Blackfan anemia is most commonly inherited in an autosomal dominant manner.^[2] This means that to be affected, a person only needs a change (mutation) in one copy of the mutated gene in each cell. A person with Diamond-Blackfan anemia has a 50% chance with each pregnancy of passing along the mutated gene to his or her child.

Around 45% of affected people have inherited the mutation from a parent and about 55% have a new (de novo) mutation, where the anemia appears for the first time in the family and there are not other cases in the family. People with Diamond-Blackfan anemia may not appear to have a family history of the condition if relatives have very mild signs and symptoms.^[3]

In rare cases, when caused by mutations in the GATA1 and in the TSR2 gene, Diamond-Blackfan anemia can be inherited in an X-linked manner. In these cases, a if a man have a mutated copy of one of these genes he will be affected; a woman who have an abnormal copy is known as "carrier" but do not have the disease. Carries have a 50% chance of transmitting the mutated copy to each of her daughters or sons in each pregnancy: All of her sons who inherit the mutated copy will have the disease and all her daughters with the mutated copy will be carriers.^[3]

Last updated: 12/1/2017

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. In people who require treatment it may include:^[3]

Corticosteroids: 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. Prednisone initial dose is 2 mg / kg / day given orally once a day, at morning time. After a month, if there is no improvement after a month the corticosteroids are tapered-of and suspended
Blood transfusions, which are given along with the corticosteroids or in people who do not get better with corticosteroids
Bone marrow/stem cell transplantation: It 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

Last updated: 12/1/2017

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis should include transient erythroblastopenia (see this term), chronic parvovirus B19 infection, and other congenital anemias. Visit the Orphanet disease page for more information.

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 related to 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

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Diamond-Blackfan anemia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Diamond-Blackfan anemia:
Diamond-Blackfan Anemia Registry
The Pediatric Myelodysplastic Syndrome (MDS) and Bone Marrow Failure (BMF) Registry
Inherited Bone Marrow Failure Syndrome Study (IBMFS)

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? We want to hear from you.

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.

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.
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

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.
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) lists the subtypes and associated genes for Diamond-Blackfan anemia in a table called Phenotypic Series. Each entry in OMIM includes 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

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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.
Diamond-Blackfan anemia. Genetics Home Reference. November 2015; http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia.
Clinton, C & Gazda, HT. Diamond Blackfan Anemia. GeneReviews. 2016; http://www.ncbi.nlm.nih.gov/books/NBK7047/.
Diamond-Blackfan Anemia. Online Mendelian Inheritance in Man (OMIM). 2017; http://omim.org/entry/105650.
Muir C, Dodds A & Samaras K. Mid-life extra-haematopoetic manifestations of Diamond–Blackfan anaemia. Endocrinology, Diabetes & Metabolism Case Reports. 2017; 2017:16-0141. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409934/.
Da Costa L, O'Donohue MF, van Dooijeweert B et al. Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. Eur J Med Genet. October 26, 2017; 1769-7212(17):30505-0. https://www.ncbi.nlm.nih.gov/pubmed/29081386.
Diamond-Blackfan anemia 6. OMIM. 2016; http://omim.org/entry/612561.