Diamond-Blackfan anemia

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Diamond-Blackfan anemia
ICD-10 D61.0
ICD-9 284.01
OMIM 105650
DiseasesDB 29062
MeSH D029503

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Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Erythrogenesis imperfecta; congenital pure red cell aplasia

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Diamond-Blackfan anemia from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

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v • d • e
Pathology: hematology, myeloid hematologic disease (primarily D50-D77, 280-289)
RBCs/
hemoglobinopathy
+ Polycythemia - Macrocytosis
-
Anemia
Nutritional Iron deficiency anemia (Plummer-Vinson syndrome), Megaloblastic anemia (Pernicious anemia)
Hemolytic
Hereditary enzyme: G6PD Deficiency - Pyruvate kinase deficiency - Triosephosphate isomerase deficiency

hemoglobin: Thalassemia - Sickle-cell disease/trait

membrane: Hereditary spherocytosis - Hereditary elliptocytosis - Hereditary stomatocytosis
Acquired Autoimmune (Warm, Cold), HUS, MAHA, PNH, PCH, Myelophthisic
Aplastic Acquired PRCA, Diamond-Blackfan anemia, Fanconi anemia, Sideroblastic anemia
Blood tests Normocytic - Microcytic - Macrocytic - Normochromic - Hypochromic
Other Methemoglobinemia
Coagulation/platelets/
coagulopathy/
bleeding diathesis
+
Hypercoagulability primary: Antithrombin III deficiency - Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden - Hyperprothrombinemia
acquired: DIC (Congenital afibrinogenemia, Purpura fulminans) - autoimmune (Antiphospholipid)
Other Essential thrombocytosis
- clotting factor: Hemophilia (A/VIII, B/IX, C/XI) • Von Willebrand disease • Hypoprothrombinemia/II - XIII

platelet function: Bernard-Soulier syndrome - Glanzmann's thrombasthenia - Gray platelet syndrome - May Hegglin anomaly - Pelger-Huet anomaly

Purpura: Henoch-Schönlein, ITP (Evans syndrome), TTP

Thrombocytopenia (Heparin-induced thrombocytopenia)
Monocytes/
macrophages
+
Histiocytosis WHO-I (Langerhans cell histiocytosis)

WHO-II/non-Langerhans-cell (Juvenile xanthogranuloma, Hemophagocytic lymphohistiocytosis)

WHO-III/malignant (Acute monocytic leukemia, Malignant histiocytosis, Erdheim-Chester disease)
Other Chronic granulomatous disease
-cytosis: Monocytosis
- -penia: Monocytopenia
Granulocytes
+ -cytosis: granulocytosis (Neutrophilia, Eosinophilia, Basophilia)
- -penia: Granulocytopenia/agranulocytosis (Neutropenia/Kostmann syndrome, Eosinopenia, Basopenia)
See also hematological malignancy and immune disorders
de:Diamond-Blackfan-Syndrom
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