Diamond-Blackfan anemia
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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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Hematological system
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Iron deficiency anemia
Alpha-thalassemia
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Hemolytic disease of the newborn
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Autoimmune hemolytic anemia
Pyruvate kinase deficiency
Paroxysmal nocturnal hemoglobinuria
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Hereditary spherocytosis
Anemia of chronic disease
Aplastic anemia
Fanconi anemia
Megaloblastic anemia
Folate (Vitamin B9) deficiency
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Fanconi anemia
Diamond-Blackfan anemia
Heme synthesis disorders
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Thrombosis syndromes (hypercoagulability)
Lymphomas
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Leukemoid reaction
Dysplastic and proliferative disorders
Plasma cell dyscrasias
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Macrocytic anemia: Pathology review
Heme synthesis disorders: Pathology review
Coagulation disorders: Pathology review
Platelet disorders: Pathology review
Mixed platelet and coagulation disorders: Pathology review
Thrombosis syndromes (hypercoagulability): Pathology review
Lymphomas: Pathology review
Leukemias: Pathology review
Plasma cell disorders: Pathology review
Myeloproliferative disorders: Pathology review
AssessmentsDiamond-Blackfan anemia
Diamond-Blackfan anemia
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Flashcards
Diamond-Blackfan anemia
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Questions
USMLE® Step 1 style questions USMLE
1 questions
USMLE® Step 2 style questions USMLE
1 questions
Preview
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/dL
HCT:30%
Plts:400,000
MCV:105fL
Retics:0.5%
Which of the following is the most likely diagnosis?
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