Myelodysplastic syndrome differential diagnosis: Difference between revisions
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*It includes the differentiating from the causes of thrombocytopenia and macrocytic anemia when it requires following differentials: | *It includes the differentiating from the causes of thrombocytopenia and macrocytic anemia when it requires following differentials: | ||
''Macrocytic anemia'' | '''Differentiation from other causes of Macrocytic anemia''' | ||
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''Thrombocytopenia'' | ''' Differentaition from other causes of Thrombocytopenia''' | ||
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Revision as of 20:08, 14 December 2018
Myelodysplastic syndrome Microchapters |
Differentiating Myelodysplastic syndrome from other Diseases |
---|
Diagnosis |
Treatment |
Case Studies |
Myelodysplastic syndrome differential diagnosis On the Web |
American Roentgen Ray Society Images of Myelodysplastic syndrome differential diagnosis |
Risk calculators and risk factors for Myelodysplastic syndrome differential diagnosis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2] Amandeep Singh M.D.[3]
Overview
Myelodysplastic syndrome must be differentiated from other diseases that cause anemia, neutropenia, and thrombocytopenia, such as: aplastic anemia, fanconi anemia, pure red cell aplasia, Shwachman-Diamond syndrome, paroxysmal nocturnal hemoglobinuria, parovirus B19 infection, and vitamin B12 defeciency
Myelodysplastic syndrome differential diagnosis
Myelodysplastic syndrome must be differentiated from other diseases that cause anemia, neutropenia, and thrombocytopenia, such as: aplastic anemia, fanconi anemia, pure red cell aplasia, Shwachman-Diamond syndrome, paroxysmal nocturnal hemoglobinuria, parovirus B19 infection, and vitamin B12 defeciency.[1][2][3][4]
Inherited cytopenia | Acquired cytopenia | Reactive cytopenia |
---|---|---|
|
|
|
- It includes the differentiating from the causes of thrombocytopenia and macrocytic anemia when it requires following differentials:
Differentiation from other causes of Macrocytic anemia
Disease | Genetics | Clinical manifestation | Lab findings | |||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
History | Symptoms | Signs | Hemolysis | Intrinsic/Extrinsic | Hb concentration | MCV | RDW | Reticulocytosis | Haptoglobin levels | Hepcidin | Iron studies | Specific finding on blood smear | ||||||
Serum iron | Serum Tfr level | Transferrin or TIBC | Ferritin | Transferrin saturation | ||||||||||||||
Folate deficiency[5] |
|
|
|
|
− | − | Anisochromic | Macrocytic | ↑ | ↓ | Nl | Nl | ↑ | ↑ | ↓ | ↑ | ↑ |
|
Vitamin B12 deficiency[6] |
|
|
|
− | − | Anisochromic | Macrocytic | ↑ | ↓ | Nl | Nl | ↑ | ↑ | ↓ | ↑ | ↑ | ||
Orotic aciduria[7] |
|
|
|
|
− | − | Anisochromic | Macrocytic | ↑ | ↓ | Nl | Nl | ↑ | ↑ | ↓ | ↑ | ↑ | NA |
Fanconi anemia[8] |
|
|
|
− | − | Anisochromic | Macrocytic | ↑ | ↓ | Nl | Nl | ↑ | ↑ | ↓ | ↑ | ↑ | ||
Disease | Genetics | History | Symptoms | Signs | Hemolysis | Intrinsic/Extrinsic | Hb concentration | MCV | RDW | Reticulocytosis | Haptoglobin levels | Hepcidin | Serum iron | Serum Tfr level | IBC | Ferritin | Transferrin saturation | Specific finding on blood smear |
Diamond-Blackfan anemia[9] | Mutations in:
|
|
|
|
− | − | Anisochromic | Macrocytic | Nl | ↓ | Nl | Nl | ↑ | ↑ | ↓ | ↑ | ↑ | NA |
Liver disease[10] | − |
|
|
− | − | Anisochromic | Macrocytic | ↑ | ↑ | Nl | Nl | ↑ | ↑ | ↓ | ↑ | ↑ | ||
Alcoholism[11] | − |
|
− | − | Anisochromic | Macrocytic | ↑ | ↑ | Nl | Nl | ↑ | ↑ | ↓ | ↑ | ↑ | |||
Disease | Genetics | History | Symptoms | Signs | Hemolysis | Intrinsic/Extrinsic | Hb concentration | MCV | RDW | Reticulocytosis | Haptoglobin levels | Hepcidin | Serum iron | Serum Tfr level | IBC | Ferritin | Transferrin saturation | Specific finding on blood smear |
Differentaition from other causes of Thrombocytopenia
Category | Condition | Etiology | Mechanism | Inherited | Acquried | Clinical manifestations | Para−clinical findings | Gold standard | Associated findings | ||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Demography | History | Symptoms | Signs | ||||||||||||||||||||||||
Lab Findings | |||||||||||||||||||||||||||
Fever | Rash | Bleeding | BP | Splenomegaly | Jaundice | Other | CBC | PBS | Bone marrow exam | PT | PTT | UA | |||||||||||||||
Decreased platelet production | Platelet destruction in blood | Platelet destruction in spleen | Plt | HB | WBC | ||||||||||||||||||||||
Hematology | Bone marrow disorders | Myelodysplastic syndromes[12] |
|
+ | − | − | ± | + | Elderly | Exposure to | + | Petechiae, purpura, diffuse erythematous rash | + | Nl | + | + | ↓ | ↓ | ↓ |
|
|
Nl | Nl | Nl | Bone marrow examination + clinical manifestation |
| |
Aplastic anemia[13] |
|
+ | − | − | ± | ± | Biphasic (the young and the elderly) |
|
− | − | + | Nl | − | − | ↓ | ↓ | ↓ |
|
|
↑ | ↑ | Nl | Bone marrow examination +
laboratory findings |
||||
Acute leukemia[14][15] |
|
+ | + | − | ± | ± | AML in adults |
|
± | Petechiae | + | Nl | ± | − | ↓ | ↓ | ↓ |
|
↑ | ↑ | Bone marrow examination |
| |||||
Paroxysmal nocturnal hemoglobinuria (PNH)[16] |
|
+ | + | − | − | + | Any age
(usually younger adults) |
|
− | − | − | Nl | − | − |
|
↓/Nl | ↓ | ↓/Nl |
|
Nl | Nl | Flow cytometry | |||||
Condition | Etiology | Decreased platelet production | Platelet destruction in blood | Platelet destruction in spleen | Inherited | Acquried | Demography | History | Fever | Rash | Bleeding | BP | Splenomegaly | Jaundice | Other signs | Plt | HB | WBC | PBS | Bone marrow exam | PT | PTT | UA | Gold standard | Associated findings | ||
Thrombotic microangiopathy (TMA) | Thrombotic thrombocytopenic purpura (TTP)[17] |
|
− | + | − | ± | + | Any age |
|
+ | Petechiae | Not common | Nl or ↑ | − | + |
|
↓ | ↓ | Nl
or ↑ |
|
NA | Nl | Nl | Laboratory findings |
| ||
Hemolytic uremic syndrome (HUS)[18] |
|
− | + | − | ± | + | Children |
|
+ | Petechiae | − | ↓ | − | + | ↓ | ↓ | Nl
or ↑ |
|
NA | Nl | Nl | Laboratory findings |
| ||||
DIC[19][20] |
|
+ | + | − | − | + | Any age |
|
+ | + | + | ↓ | − | + |
|
↓ | ↓↓ | ↑ |
|
↑↑ | ↑ | Clinical manifestation + laboratory findings |
| ||||
Nutrient deficiencies | Folate, vitamin B12, copper deficiencies[21][22] |
|
+ | − | − | − | + | Any age |
|
− | − | − | Nl | − | − | ↓ | ↓ | Nl | Nl | Nl | Nl | Laboratory findings | |||||
Condition | Etiology | Decreased platelet production | Platelet destruction in blood | Platelet destruction in spleen | Inherited | Acquried | Demography | History | Fever | Rash | Bleeding | BP | Splenomegaly | Jaundice | Other signs | Plt | HB | WBC | PBS | Bone marrow exam | PT | PTT | UA | Gold standard | Associated findings | ||
Congenital platelet disorders[23][24][25] | MYH9-related disorders[26] |
|
+ | − | − | + | − | Any age, very rare |
|
− | + | Nl | − | − |
|
↓ | ↓ | Nl |
|
NA | Nl | Nl | Nl | Genetic study | |||
Bernard-Soulier syndrome[27] |
|
+ | − | − | + | − | Children, rare |
|
− | − | + | Nl | − | − | − | ↓ | Nl | Nl |
|
|
Nl | Nl | Nl | Flow cytometry |
| ||
Gray platelet syndrome[28] |
|
+ | − | − | + | − | Rare |
|
− | +
Mucocutaneous |
Nl | + | − | ↓ | Nl | Nl |
|
Nl | Nl | Nl | Genetic study | ||||||
Wiskott-Aldrich syndrome[29] |
|
+ | − | − | + | − | Rare |
|
− | + | Nl | − | − | Bloody diarrhea | ↓ | Nl | Nl |
|
|
Nl | Nl | Nl | Genetic study |
| |||
Thrombocytopenia with absent radius (TAR) syndrome[30] |
|
+ | − | − | + | − | Children |
|
− | + | + | Nl | − | − |
|
↓ | Nl | Nl or ↑ |
|
|
Nl | Nl | Nl | Evidence of absent radius
+ Laboratory findings |
| ||
Fechtner syndrome[31] |
|
+ | − | − | + | − | Children |
|
− |
|
+ Mucocutaneous | Nl | − | − |
|
↓ | Nl | Nl or ↑ |
|
NA | Nl | Nl | Clinical manifestation + genetic study | ||||
Von Willebrand disease[32] |
|
+ | − | − | + | Rarely | More common with O blood type |
|
− | − | + | − | − | − | − | Nl/ ↓ | Nl/↓ | Nl |
|
NA | Nl | Nl or ↑ | Laboratory findings |
| |||
Category | Condition | Etiology | Decreased platelet production | Platelet destruction in blood | Platelet destruction in spleen | Inherited | Acquried | Demography | History | Fever | Rash | Bleeding | BP | Splenomegaly | Jaundice | Other signs | Plt | HB | WBC | PBS | Bone marrow exam | PT | PTT | UA | Gold standard | Associated findings | |
Rheumatologic/autoimmune disorders | ITP[33] |
|
+ | + | − | − | + | Any age | − | − |
|
+ Mucocutaneous | Nl | − | − | − | ↓↓↓ | Nl | Nl | Nl |
|
Nl | Nl | Nl | Diagnosis of exclusion |
| |
Systemic lupus erythematosus[34] |
|
− | + | − | − | + | Young women, more prevalent in Africans and Asians |
|
+ | Malar rash, generalized maculopapular rash, discoid rash | + | Nl or ↑ | + | + |
|
↓ | ↓ | ↓ | ↑ | ↑ |
|
Clinical manifestation + serology |
| ||||
Antiphospholipid syndrome[35] |
|
− | + | − | + | + | Middle aged women, more in African American and Hispanic population |
|
− | − | − | Nl | − | − | ↓ | Nl | ↓ | Nl | ↑ | Clinical manifestation + repeated positive tests of aPL |
| ||||||
Felty's syndrome[36] |
|
− | + | + | ± | + | Rare, young women | − |
|
− | Nl | + | − |
|
↓ | Nl | ↓ | Nl | Nl | Nl | Clinical manifestation |
| |||||
Category | Condition | Etiology | Decreased platelet production | Platelet destruction in blood | Platelet destruction in spleen | Inherited | Acquried | Demography | History | Fever | Rash | Bleeding | BP | Splenomegaly | Jaundice | Other signs | Plt | HB | WBC | PBS | Bone marrow exam | PT | PTT | UA | Gold standard | Associated findings | |
Infection-induced | Bacterial infections | Sepsis[37] |
|
+ | + | − | − | + | Any | + | ± | Nl to ↓ | − | ± | ↓/↑ | Nl | ↑↑ |
|
NA | ↑ | ↑ | +
Depends on the etiology |
Clinical manifestation + culture |
| |||
Helicobacter pylori[38] |
|
− | + | − | − | + | Any | − | − | − | − | Nl | − | − |
|
↓ | Nl | Nl |
|
NA | Nl | Nl | Nl | Clinical manifestation + culture | |||
Tick-borne infection[39] |
|
− | + | − | − | + | Endemic area like China, Japan, and Korea |
|
+ | ± | Nl to ↓ | ± | ± | ↓ | Nl | ↓ |
|
NA | Nl | Nl | PCR |
| |||||
Viral infections | HIV[40] |
|
+ | + | + | − | + | Any |
|
+ | ± | Nl to ↓ | ± | ± |
|
↓ | ↓ | ↓ | ↑ | ↑ | Isolation of HIV |
| |||||
Other viruses such as rubella, mumps, varicella, parvovirus, hepatitis C, & Epstein-Barr virus[41] |
|
+ | − | − | − | + | Any |
|
+ | − | Nl | ± | ± |
|
↓ | ↓ | ↓ | Nl | Nl | Clinical manifestation + lab tests |
| ||||||
Parasitic infections | Malaria[42] |
|
+ | − | − | − | + | Endemic area |
|
+ | − | ± | Nl to ↓ | ± | ± | ↓ | ↓ | ↓ | Nl | Nl | Clinical manifestation + microscopic examination of blood smear |
| |||||
Babesiosis[43] |
|
+ | − | − | − | + | Rare |
|
+ | − | ± | Nl to ↓ | ± | ± | ↓ | ↓ | ↓ | Nl | Nl | Clinical manifestation + microscopic examination of blood smear |
| ||||||
Category | Condition | Etiology | Decreased platelet production | Platelet destruction in blood | Platelet destruction in spleen | Inherited | Acquried | Demography | History | Fever | Rash | Bleeding | BP | Splenomegaly | Jaundice | Other signs | Plt | HB | WBC | PBS | Bone marrow exam | PT | PTT | UA | Gold standard | Associated findings | |
Medication/toxicity | Antibiotics/ |
|
+ | + | − | − | + | Any |
|
− | − | Nl | − | − | − | ↓↓ | ↓ | Nl |
|
NA | Nl | Nl | Nl | Clinical manifestation + exclusion of the other causes | NA | ||
Heparin-induced thrombocytopenia[45] |
|
− | + | − | − | + | Any |
|
− |
|
− | Nl | − | − | − | ↓ | Nl | Nl |
|
NA | Nl | Nl | Nl | ELISA |
| ||
Cytotoxic chemotherapy[46] | + | − | − | − | + | Patients with malignancy |
|
− |
|
− | Nl | − | − | − | ↓ | ↓ | ↓ |
|
|
↑ | ↑ | Hematuria | Clinical manifestation + exclusion of the other causes | ||||
Radiation therapy[47] |
|
+ | − | − | − | + | Patients with malignancy | − | + | Nl | − | − | − | ↓ | ↓ | ↓ |
|
|
↑ | ↑ | Hematuria | Clinical manifestation + exclusion of the other causes | |||||
GI | Chronic liver disease[48] | + | − | − | − | + | Any | − | + | ↓ | + | + | − | ↓ | ↓ | Nl |
|
NA | ↑ | ↑ | Nl | Biopsy |
| ||||
Portal hypertension[49] | + | − | − | − | + | Any | − | + | ↓ | + | + | − | ↓ | ↓ | Nl |
|
NA | ↑ | ↑ | Nl | Clinical manifestation | ||||||
Category | Condition | Etiology | Decreased platelet production | Platelet destruction in blood | Platelet destruction in spleen | Inherited | Acquried | Demography | History | Fever | Rash | Bleeding | BP | Splenomegaly | Jaundice | Other signs | Plt | HB | WBC | PBS | Bone marrow exam | PT | PTT | UA | Gold standard | Associated findings | |
Vascular | Giant capillary hemangioma (Kasabach-Merritt syndrome)[50][51] |
|
− | + | − | + | − | Infants |
|
− |
|
Intralesional bleeding | Nl | − | − | Visceral hemangiomas | ↓↓ | ↓↓ | Nl | Normocytic normochromic erythrocytes and markedly reduced platelets | Normal erythropoiesis, myelopoiesis, and megakaryocytic hyperplasia | ↑ | ↑ | Hematuria | Biopsy |
| |
Cardiopulmonary bypass[52] |
|
− | + | − | − | + | Elderly | − | + | Nl or ↑ | − | − | − | ↓ | ↓ | Nl | Normocytic normochromic erythrocytes and markedly reduced platelets | NA | ↑ | ↑ | Hematuria | Clinical manifestation | |||||
Other | Alcohol[53] |
|
+ | − | + | − | + | Any |
|
− | − | − | Nl | + | + | ↓ | ↓ | ↓ | Cytopenia, macrocytosis | Cytopenia, macrocytosis | ↑ | ↑ | Nl | Clinical manifestation | |||
Post-transfusion purpura[54][55] |
|
− | + | − | − | + | Women |
|
− | + | ↓ | − | − | − | ↓↓↓ | ↓ | Nl | Nl | NA | Nl | Nl | Nl | Positive circulating alloantibody to a common platelet antigen |
| |||
Gestational thrombocytopenia[56] |
|
− | − | − | − | + | Pregnant women |
|
− | − | − | Nl | − | − | − | ↓ | Nl | Nl | Nl | NA | Nl | Nl | Nl | Diagnosis of exclusion |
| ||
HELLP syndrome[57][58] |
|
− | + | − | − | + | Pregnant > 25 years |
|
− | − | + | ↑ | − | + | ↓ | ↓ | Nl | Schistocytes | NA | Nl | Nl | Proteinuria | Lab abnormalities |
| |||
Idiopathic cyclic thrombocytopenia[59] |
|
+ | + | − | − | + | Females with the median age of onset 35 years |
|
− | Minor mucocutaneous bleeding | Nl | − | − | − | ↓ | Nl | Nl | Reduced platelets and megakaryocytes | Megakaryocytic hypoplasia or aplasia | Nl | Nl | Nl | Diagnosis of exclusion | ||||
Pseudothrombocytopenia[60] | − | − | − | − | + | Rare | Collected sample in EDTA anticoagulant | − | − | − | Nl | − | − | − | ↓ | Nl | Nl | Low platelet count and platelet clumps | Low platelet count and platelet clumps | Nl | Nl | Nl | Repeat collecting sample in a heparin tube | Nl | |||
Category | Condition | Etiology | Decreased platelet production | Platelet destruction in blood | Platelet destruction in spleen | Inherited | Acquried | Demography | History | Fever | Rash | Bleeding | BP | Splenomegaly | Jaundice | Other signs | Plt | HB | WBC | PBS | Bone marrow exam | PT | PTT | UA | Gold standard | Associated findings |
References
- ↑ Differential diagnosis of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 9, 2015
- ↑ Merrill, Andrea L.; Smith, Hedy (2011). "Myelodysplastic Syndrome and Autoimmunity: A Case Report of an Unusual Presentation of Myelodysplastic Syndrome". Case Reports in Hematology. 2011: 1–4. doi:10.1155/2011/560106. ISSN 2090-6560.
- ↑ DeZern, A. E.; Sekeres, M. A. (2014). "The Challenging World of Cytopenias: Distinguishing Myelodysplastic Syndromes From Other Disorders of Marrow Failure". The Oncologist. 19 (7): 735–745. doi:10.1634/theoncologist.2014-0056. ISSN 1083-7159.
- ↑ Weinzierl, E. P.; Arber, D. A. (2012). "The Differential Diagnosis and Bone Marrow Evaluation of New-Onset Pancytopenia". American Journal of Clinical Pathology. 139 (1): 9–29. doi:10.1309/AJCP50AEEYGREWUZ. ISSN 0002-9173.
- ↑ Koike H, Takahashi M, Ohyama K, Hashimoto R, Kawagashira Y, Iijima M, Katsuno M, Doi H, Tanaka F, Sobue G (March 2015). "Clinicopathologic features of folate-deficiency neuropathy". Neurology. 84 (10): 1026–33. doi:10.1212/WNL.0000000000001343. PMID 25663227.
- ↑ Hunt A, Harrington D, Robinson S (September 2014). "Vitamin B12 deficiency". BMJ. 349: g5226. PMID 25189324.
- ↑ Grohmann K, Lauffer H, Lauenstein P, Hoffmann GF, Seidlitz G (April 2015). "Hereditary orotic aciduria with epilepsy and without megaloblastic anemia". Neuropediatrics. 46 (2): 123–5. doi:10.1055/s-0035-1547341. PMID 25757096.
- ↑ Alter BP (2014). "Fanconi anemia and the development of leukemia". Best Pract Res Clin Haematol. 27 (3–4): 214–21. doi:10.1016/j.beha.2014.10.002. PMC 4254647. PMID 25455269.
- ↑ Vlachos A, Blanc L, Lipton JM (June 2014). "Diamond Blackfan anemia: a model for the translational approach to understanding human disease". Expert Rev Hematol. 7 (3): 359–72. doi:10.1586/17474086.2014.897923. PMID 24665981.
- ↑ Marks PW (July 2013). "Hematologic manifestations of liver disease". Semin. Hematol. 50 (3): 216–21. doi:10.1053/j.seminhematol.2013.06.003. PMID 23953338.
- ↑ Yokoyama A, Yokoyama T, Brooks PJ, Mizukami T, Matsui T, Kimura M, Matsushita S, Higuchi S, Maruyama K (May 2014). "Macrocytosis, macrocytic anemia, and genetic polymorphisms of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 in Japanese alcoholic men". Alcohol. Clin. Exp. Res. 38 (5): 1237–46. doi:10.1111/acer.12372. PMID 24588059.
- ↑ Natelson, Ethan A.; Pyatt, David (2013). "Acquired Myelodysplasia or Myelodysplastic Syndrome: Clearing the Fog". Advances in Hematology. 2013: 1–11. doi:10.1155/2013/309637. ISSN 1687-9104.
- ↑ Townsley, Danielle M.; Desmond, Ronan; Dunbar, Cynthia E.; Young, Neal S. (2013). "Pathophysiology and management of thrombocytopenia in bone marrow failure: possible clinical applications of TPO receptor agonists in aplastic anemia and myelodysplastic syndromes". International Journal of Hematology. 98 (1): 48–55. doi:10.1007/s12185-013-1352-6. ISSN 0925-5710.
- ↑ Oshima, Yasuo; Yuji, Koichiro; Tanimoto, Tetsuya; Hinomura, Yasushi; Tojo, Arinobu (2013). "Association between Acute Myelogenous Leukemia and Thrombopoietin Receptor Agonists in Patients with Immune Thrombocytopenia". Internal Medicine. 52 (19): 2193–2201. doi:10.2169/internalmedicine.52.0324. ISSN 0918-2918.
- ↑ Oshima Y, Yuji K, Tanimoto T, Hinomura Y, Tojo A (2013). "Association between acute myelogenous leukemia and thrombopoietin receptor agonists in patients with immune thrombocytopenia". Intern. Med. 52 (19): 2193–201. PMID 24088751.
- ↑ Brodsky RA (2014). "Paroxysmal nocturnal hemoglobinuria". Blood. 124 (18): 2804–11. doi:10.1182/blood-2014-02-522128. PMC 4215311. PMID 25237200.
- ↑ Noris M, Mescia F, Remuzzi G (November 2012). "STEC-HUS, atypical HUS and TTP are all diseases of complement activation". Nat Rev Nephrol. 8 (11): 622–33. doi:10.1038/nrneph.2012.195. PMID 22986360.
- ↑ Conway EM (October 2015). "HUS and the case for complement". Blood. 126 (18): 2085–90. doi:10.1182/blood-2015-03-569277. PMID 26396094.
- ↑ Schwameis M, Schörgenhofer C, Assinger A, Steiner MM, Jilma B (April 2015). "VWF excess and ADAMTS13 deficiency: a unifying pathomechanism linking inflammation to thrombosis in DIC, malaria, and TTP". Thromb. Haemost. 113 (4): 708–18. doi:10.1160/TH14-09-0731. PMC 4745134. PMID 25503977.
- ↑ Kitchens CS (2009). "Thrombocytopenia and thrombosis in disseminated intravascular coagulation (DIC)". Hematology Am Soc Hematol Educ Program: 240–6. doi:10.1182/asheducation-2009.1.240. PMID 20008204.
- ↑ Clarke, V.; Weston-Smith, S. (2010). "Severe folate-deficiency pancytopenia". Case Reports. 2010 (oct18 2): bcr0320102851–bcr0320102851. doi:10.1136/bcr.03.2010.2851. ISSN 1757-790X.
- ↑ Blackmer AB, Bailey E (February 2013). "Management of copper deficiency in cholestatic infants: review of the literature and a case series". Nutr Clin Pract. 28 (1): 75–86. doi:10.1177/0884533612461531. PMID 23069991.
- ↑ Nurden AT, Freson K, Seligsohn U (2012). "Inherited platelet disorders". Haemophilia. 18 Suppl 4: 154–60. doi:10.1111/j.1365-2516.2012.02856.x. PMID 22726100.
- ↑ Balduini, Carlo L.; Savoia, Anna (2012). "Genetics of familial forms of thrombocytopenia". Human Genetics. 131 (12): 1821–1832. doi:10.1007/s00439-012-1215-x. ISSN 0340-6717.
- ↑ D'Andrea G, Chetta M, Margaglione M (2009). "Inherited platelet disorders: thrombocytopenias and thrombocytopathies". Blood Transfus. 7 (4): 278–92. doi:10.2450/2009.0078-08. PMC 2782805. PMID 20011639.
- ↑ Zhang S, Zhou X, Liu S, Bai T, Zhang Y, Wang J, Wang S, Zhang X, Wang B (2014). "MYH9-related disease: description of a large Chinese pedigree and a survey of reported mutations". Acta Haematol. 132 (2): 193–8. doi:10.1159/000356681. PMID 24643058.
- ↑ Berndt MC, Andrews RK (March 2011). "Bernard-Soulier syndrome". Haematologica. 96 (3): 355–9. doi:10.3324/haematol.2010.039883. PMC 3046265. PMID 21357716.
- ↑ Michelson AD (January 2013). "Gray platelet syndrome". Blood. 121 (2): 250. PMID 23427340.
- ↑ Candotti F (January 2018). "Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome". J. Clin. Immunol. 38 (1): 13–27. doi:10.1007/s10875-017-0453-z. PMID 29086100.
- ↑ Al-Qattan MM (November 2016). "The Pathogenesis of Radial Ray Deficiency in Thrombocytopenia-Absent Radius (TAR) Syndrome". J Coll Physicians Surg Pak. 26 (11): 912–916. doi:2476 Check
|doi=
value (help). PMID 27981927. - ↑ Toren A, Amariglio N, Rozenfeld-Granot G, Simon AJ, Brok-Simoni F, Pras E, Rechavi G (December 1999). "Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13". Am. J. Hum. Genet. 65 (6): 1711–7. doi:10.1086/302654. PMC 1288382. PMID 10577925.
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