Diamond-Blackfan anemia

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Notes

Diamond-Blackfan anemia

Hematological system

Anemias

Iron deficiency anemia

Beta-thalassemia

Alpha-thalassemia

Sideroblastic anemia

Anemia of chronic disease

Lead poisoning

Hemolytic disease of the newborn

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Autoimmune hemolytic anemia

Pyruvate kinase deficiency

Paroxysmal nocturnal hemoglobinuria

Sickle cell disease (NORD)

Hereditary spherocytosis

Anemia of chronic disease

Aplastic anemia

Fanconi anemia

Megaloblastic anemia

Folate (Vitamin B9) deficiency

Vitamin B12 deficiency

Fanconi anemia

Diamond-Blackfan anemia

Heme synthesis disorders

Acute intermittent porphyria

Porphyria cutanea tarda

Lead poisoning

Coagulation disorders

Hemophilia

Vitamin K deficiency

Platelet disorders

Bernard-Soulier syndrome

Glanzmann's thrombasthenia

Hemolytic-uremic syndrome

Immune thrombocytopenic purpura

Thrombotic thrombocytopenic purpura

Mixed platelet and coagulation disorders

Von Willebrand disease

Disseminated intravascular coagulation

Heparin-induced thrombocytopenia

Thrombosis syndromes (hypercoagulability)

Antithrombin III deficiency

Factor V Leiden

Protein C deficiency

Protein S deficiency

Antiphospholipid syndrome

Lymphomas

Hodgkin lymphoma

Non-Hodgkin lymphoma

Leukemias

Chronic leukemia

Acute leukemia

Leukemoid reaction

Leukemoid reaction

Dysplastic and proliferative disorders

Myelodysplastic syndromes

Polycythemia vera (NORD)

Myelofibrosis (NORD)

Essential thrombocythemia (NORD)

Langerhans cell histiocytosis

Mastocytosis (NORD)

Plasma cell dyscrasias

Multiple myeloma

Monoclonal gammopathy of undetermined significance

Waldenstrom macroglobulinemia

Hematological system pathology review

Microcytic anemia: Pathology review

Non-hemolytic normocytic anemia: Pathology review

Intrinsic hemolytic normocytic anemia: Pathology review

Extrinsic hemolytic normocytic anemia: Pathology review

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

Assessments

Diamond-Blackfan anemia

Flashcards

0 / 6 complete

USMLE® Step 1 questions

0 / 2 complete

High Yield Notes

5 pages

Flashcards

Diamond-Blackfan anemia

of complete

Questions

USMLE® Step 1 style questions USMLE

of complete

A 25-year-old woman presents to her outpatient provider for symptoms of fatigue and reduced exercise tolerance that started 2 weeks ago. Past medical history is notable for seizure disorder that is currently managed with phenytoin. In addition, the patient had an episode of pyelonephritis several weeks ago that was successfully treated with trimethoprim-sulfamethoxazole. The patient has menstrual periods every 28 days, and denies dysmenorrhea and menorrhagia. Physical examination is notable for conjunctival pallor. Laboratory testing reveals a hemoglobin on 9.3 g/dL. A peripheral blood smear is performed and shows the following:  

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Which of the following sets of red blood cell characteristics is most likely to be seen in this patient?    

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Summary

Diamond-Blackfan anemia (DBA) is a genetic disorder characterized by the bone marrow's inability to produce red blood cells. It is also associated with short stature, low-set ears, a small jaw, thumbs with three phalanges, and a webbed neck.

Elsevier

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