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Diamond-Blackfan anemia

Summary of Diamond-Blackfan anemia
Diamond–Blackfan anemia is a congenital erythroid aplasia that usually presents in infancy. Diamond–Blackfan anemia causes low red blood cell counts (anemia), without substantially affecting the other blood components (the platelets and the white blood cells), which are usually normal. This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results primarily in neutropenia, and Fanconi anemia, where all cell lines are affected resulting in pancytopenia.

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Pathology

Hematological system

Anemias
Heme synthesis disorders
Coagulation disorders
Platelet disorders
Mixed platelet and coagulation disorders
Thrombosis syndromes (hypercoagulability)
Lymphomas
Leukemias
Leukemoid reaction
Dysplastic and proliferative disorders
Plasma cell dyscrasias
Hematological system pathology review

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Diamond-Blackfan anemia

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High Yield Notes
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Diamond-Blackfan anemia

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Diamond-Blackfan anemia typically follows a(n) genetic inheritance pattern.

Questions

USMLE® Step 1 style questions USMLE

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USMLE® Step 2 style questions USMLE

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A 1-month-old infant boy is brought to the office because a routine screening complete blood count (CBC) revealed a moderate anemia 1 week ago. Examination shows that the infant is small for his age (5th percentile for both weight and length) and has abnormal facies. On auscultation, a II/VI, harsh, holosystolic murmur is heard at the left of the sternum between the fourth and fifth. ribs. Repeat CBC is obtained.
WBC:6000/µL
Hb:9.1g/dLHCT:30%Plts:400,000MCV:105fLRetics:0.5%
Which of the following is the most likely diagnosis?