Diamond-Blackfan anemia
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Diamond-Blackfan anemia
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Anatomical terminology
Introduction to the lymphatic system
Introduction to the muscular system
Introduction to the skeletal system
Metaplasia and dysplasia
Autosomal trisomies: Pathology review
Down syndrome (Trisomy 21)
Inheritance patterns
DNA damage and repair
DNA replication
Selective permeability of the cell membrane
Free radicals and cellular injury
Colorectal polyps and cancer: Pathology review
Oral cancer
Testicular cancer
Testicular tumors: Pathology review
Breast cancer
Prostate cancer
Lung cancer
Hypertension: Pathology review
Apnea, hypoventilation and pulmonary hypertension: Pathology review
Arterial disease
Aortic valve disease
Asthma
Atrial septal defect
Bronchiectasis
Chronic bronchitis
Chronic venous insufficiency
Emphysema
Stroke volume, ejection fraction, and cardiac output
Peripheral artery disease
Pleural effusion
Coarctation of the aorta
Deep vein thrombosis
Endocarditis
Gas exchange in the lungs, blood and tissues
Heart failure
Mitral valve disease
Myocardial infarction
Patent ductus arteriosus
Pericarditis and pericardial effusion
Pneumonia
Pulmonary edema
Restrictive lung diseases
Atrioventricular block
Heart blocks: Pathology review
Bundle branch block
Pulseless electrical activity
Atrial fibrillation
Atrial flutter
Atrioventricular nodal reentrant tachycardia (AVNRT)
Premature atrial contraction
Wolff-Parkinson-White syndrome
Supraventricular arrhythmias: Pathology review
Brugada syndrome
Long QT syndrome and Torsade de pointes
Premature ventricular contraction
Ventricular fibrillation
Ventricular tachycardia
Ventricular arrhythmias: Pathology review
Dilated cardiomyopathy
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Cardiomyopathies: Pathology review
Cardiac tumors
Ventricular septal defect
Acyanotic congenital heart defects: Pathology review
Hypoplastic left heart syndrome
Tetralogy of Fallot
Transposition of the great vessels
Truncus arteriosus
Total anomalous pulmonary venous return
Cyanotic congenital heart defects: Pathology review
ECG cardiac hypertrophy and enlargement
ECG cardiac infarction and ischemia
Cor pulmonale
Heart failure: Pathology review
Endocarditis: Pathology review
Myocarditis
Rheumatic heart disease
Cardiac tamponade
Dressler syndrome
Pericardial disease: Pathology review
Cardiovascular changes during hemorrhage
Pulmonary valve disease
Tricuspid valve disease
Valvular heart disease: Pathology review
Aneurysms
Aortic dissection
Aortic dissections and aneurysms: Pathology review
Angina pectoris
Coronary steal syndrome
Stable angina
Prinzmetal angina
Unstable angina
Coronary artery disease: Pathology review
Abetalipoproteinemia
Familial hypercholesterolemia
Hyperlipidemia
Hypertriglyceridemia
Atherosclerosis and arteriosclerosis: Pathology review
Dyslipidemias: Pathology review
Hypertension
Hypertensive emergency
Pheochromocytoma
Polycystic kidney disease
Renal artery stenosis
Hypotension
Orthostatic hypotension
Lymphangioma
Lymphedema
Shock
Shock: Pathology review
Subclavian steal syndrome
Peripheral artery disease: Pathology review
Behcet's disease
Kawasaki disease
Vasculitis
Vasculitis: Pathology review
Thrombophlebitis
Angiosarcomas
Human herpesvirus 8 (Kaposi sarcoma)
Vascular tumors
Cardiac and vascular tumors: Pathology review
Dementia: Pathology review
Anxiety disorders: Clinical
Arteriovenous malformation
Bipolar and related disorders
Cauda equina syndrome
Cranial nerves
Epilepsy
Generalized anxiety disorder
Headaches: Pathology review
Huntington disease
Ischemic stroke
Meningitis
Migraine
Myasthenia gravis
Panic disorder
Parkinson disease
Stroke: Clinical
Alzheimer disease
Adrenal cortical carcinoma
Adrenal masses: Pathology review
Adrenoleukodystrophy (NORD)
Congenital adrenal hyperplasia
Conn syndrome
Cushing syndrome
Cushing syndrome and Cushing disease: Pathology review
Hyperaldosteronism
Primary adrenal insufficiency
Adrenal insufficiency: Pathology review
Waterhouse-Friderichsen syndrome
McCune-Albright syndrome
5-alpha-reductase deficiency
Androgen insensitivity syndrome
Delayed puberty
Kallmann syndrome
Polycystic ovary syndrome
Precocious puberty
Premature ovarian failure
Alkaptonuria
Amyloidosis
Cystinosis
Cystinuria (NORD)
Disorders of amino acid metabolism: Pathology review
Disorders of carbohydrate metabolism: Pathology review
Disorders of fatty acid metabolism: Pathology review
Essential fructosuria
Fabry disease (NORD)
Galactosemia
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Glycogen storage disorders: Pathology review
Hartnup disease
Hereditary fructose intolerance
Homocystinuria
Krabbe disease
Lactose intolerance
Lesch-Nyhan syndrome
Lysosomal storage disorders: Pathology review
Maple syrup urine disease
Metachromatic leukodystrophy (NORD)
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Ornithine transcarbamylase deficiency
Orotic aciduria
Phenylketonuria (NORD)
Purine and pyrimidine synthesis and metabolism disorders: Pathology review
Pyruvate dehydrogenase deficiency
Tay-Sachs disease (NORD)
Multiple endocrine neoplasia
Multiple endocrine neoplasia: Pathology review
Neuroblastoma
Neuroendocrine tumors of the gastrointestinal system: Pathology review
Opsoclonus myoclonus syndrome (NORD)
Pancreatic neuroendocrine neoplasms
Pituitary tumors: Pathology review
Zollinger-Ellison syndrome
Hyperparathyroidism
Hypoparathyroidism
Hypercalcemia
Hypocalcemia
Parathyroid disorders and calcium imbalance: Pathology review
Diabetes mellitus
Diabetes mellitus: Pathology review
Diabetic nephropathy
Diabetic retinopathy
Hyperpituitarism
Pituitary adenoma
Hyperprolactinemia
Prolactinoma
Acromegaly
Gigantism
Hypopituitarism
Hypopituitarism: Pathology review
Hypoprolactinemia
Pituitary apoplexy
Sheehan syndrome
Constitutional growth delay
Diabetes insipidus
Syndrome of inappropriate antidiuretic hormone secretion (SIADH)
Diabetes insipidus and SIADH: Pathology review
Autoimmune polyglandular syndrome type 1 (NORD)
Thyroglossal duct cyst
Hyperthyroidism
Hyperthyroidism: Pathology review
Graves disease
Thyroid eye disease (NORD)
Toxic multinodular goiter
Thyroid storm
Hypothyroidism
Hypothyroidism: Pathology review
Euthyroid sick syndrome
Hashimoto thyroiditis
Subacute granulomatous thyroiditis
Riedel thyroiditis
Thyroid cancer
Thyroid nodules and thyroid cancer: Pathology review
Acute radiation syndrome
Fanconi anemia
Diamond-Blackfan anemia
Autoimmune hemolytic anemia
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemolytic disease of the newborn
Hereditary spherocytosis
Paroxysmal nocturnal hemoglobinuria
Pyruvate kinase deficiency
Sickle cell disease (NORD)
Intrinsic hemolytic normocytic anemia: Pathology review
Extrinsic hemolytic normocytic anemia: Pathology review
Folate (Vitamin B9) deficiency
Megaloblastic anemia
Vitamin B12 deficiency
Alpha-thalassemia
Anemia of chronic disease
Beta-thalassemia
Iron deficiency anemia
Lead poisoning
Sideroblastic anemia
Microcytic anemia: Pathology review
Aplastic anemia
Non-hemolytic normocytic anemia: Pathology review
Macrocytic anemia: Pathology review
Hemophilia
Vitamin K deficiency
Langerhans cell histiocytosis
Mastocytosis (NORD)
Myelodysplastic syndromes
Essential thrombocythemia (NORD)
Myelofibrosis (NORD)
Polycythemia vera (NORD)
Myeloproliferative disorders: Pathology review
Acute intermittent porphyria
Porphyria cutanea tarda
Heme synthesis disorders: Pathology review
Acute leukemia
Chronic leukemia
Leukemias: Pathology review
Leukemoid reaction
Hodgkin lymphoma
Non-Hodgkin lymphoma
Lymphomas: Pathology review
Disseminated intravascular coagulation
Heparin-induced thrombocytopenia
Von Willebrand disease
Mixed platelet and coagulation disorders: Pathology review
Coagulation disorders: Pathology review
Bernard-Soulier syndrome
Glanzmann's thrombasthenia
Hemolytic-uremic syndrome
Thrombotic thrombocytopenic purpura
Platelet disorders: Pathology review
Antiphospholipid syndrome
Antithrombin III deficiency
Factor V Leiden
Protein C deficiency
Protein S deficiency
Thrombosis syndromes (hypercoagulability): Pathology review
Multiple myeloma
Monoclonal gammopathy of undetermined significance
Waldenstrom macroglobulinemia
Plasma cell disorders: Pathology review
Inflammation
Role of Vitamin K in coagulation
Androgens and antiandrogens
Aromatase inhibitors
Drug administration and dosing regimens
Enzyme function
Fat-soluble vitamin deficiency and toxicity: Pathology review
Assessments
Flashcards
0 / 6 complete
USMLE® Step 1 questions
0 / 2 complete
High Yield Notes
5 pages
Flashcards
Diamond-Blackfan anemia
0 of 6 complete
Questions
USMLE® Step 1 style questions USMLE
0 of 2 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:
Reproduced from: Flickr
Which of the following sets of red blood cell characteristics is most likely to be seen in this patient?
Reproduced from: Flickr
Which of the following sets of red blood cell characteristics is most likely to be seen in this patient?
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.