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USMLE Links.com Â' Blog Archive Â' Diamond-Blackfan Syndrome
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Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells (pure RBC aplasia) , which carry oxygen to the body's tissues. This is identified with a concurrent major decrease in Hb and slight macrocytosis with MCV The resulting shortage of red blood cells (anemia) usually becomes apparent during the first year of life. Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor). Diamond-Blackfan anemia affects approximately 5 to 7 per million newborns worldwide
Physical Manifestations
Approximately half of individuals with Diamond-Blackfan anemia have physical abnormalities. They may have an unusually small head size (microcephaly) and a low frontal hairline, along with distinctive facial features such as wide-set eyes (hypertelorism); droopy eyelids (ptosis); a broad, flat bridge of the nose; small, low-set ears; and a small lower jaw (micrognathia). Affected individuals may also have an opening in the roof of the mouth (cleft palate) and/or a split in the upper lip (cleft lip). They may have a short, webbed neck; shoulder blades which are smaller and higher than usual; and abnormalities of their hands, most commonly malformed or absent thumbs. About one-third of affected individuals have slowed growth leading to short stature.
Other features of Diamond-Blackfan anemia may include eye problems such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), or eyes that do not look in the same direction (strabismus). Affected individuals may also have kidney abnormalities; structural defects of the heart; and, in males, the opening of the urethra on the underside of the penis (hypospadias).
Etiology
The primary defect is an intrisic defect of erythroid progenitor cells which results in increased apoptosis. This leads to th presentation in infancy with pallor.
Diagnosis
Typically, a diagnosis of DBA is made through a blood count and a bone marrow biopsy.
A diagnosis of DBA is made on the basis of:
anemia,
low reticulocyte (immature red blood cells) counts, and
diminished erythroid precursors in bone marrow.
Features that support a diagnosis of DBA include:
the presence of congenital abnormalities,
macrocytosis,
elevated fetal hemoglobin, and
elevated adenosine deaminase levels in red blood cells
Most patients are diagnosed in the first two years of life. However, some mildly affected individuals only receive attention after a more severely affected family member is identified.
About 20-25% of DBA patients may be identified with a genetic test for mutations in the RPS19 gene A 1 day old neonate with seizurers
USMLElinks.com Contributing MD on 2 year old girl brought to the ER with severe ab pain .
USMLElinks.com Contributing MD on 5 year old boy is brought to the clinic by this mother
USMLElinks.com Contributing MD on 1 month old infant born with craniofacial anomalies
USMLElinks.com Contributing MD on 5 year old female child is brought to the ER for fever, chills and
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