ReviewIndian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2018
Inherited Macrothrombocytopenia: Correlating Morphology, Epidemiology, Molecular Pathology and Clinical Features.
Review in Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Potential Mechanisms of Platelet Dysfunction and Bleeding in Acid Sphingomyelinase Deficiency.Cells · 2026Review
- Co-inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction.British journal of haematology · 2026Article
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Sparse matrix factorization robust to sample sharing across GWASs reveals interpretable genetic components.American journal of human genetics · 2025Article
- A circle of life: platelet and megakaryocyte cytoskeleton dynamics in health and disease.Open biology · 2024Review
- Macrothrombocytopenia: Role of Automated Platelet Data in Diagnosis.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2023Article
- Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of αFrontiers in pediatrics · 2021Article
- Summary and Review of the Abstracts on Hemostasis/Thrombosis Presented at Haematocon 2018, Kochi.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2019Article
- Inherited Thrombocytopenias: Combining High-Throughput Sequencing With Other Relevant Data.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisArticle
- Prevalence of asymptomatic macrothrombocytopenia in voluntary blood donors: A multicentric study.Asian journal of transfusion scienceArticle
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited macrothrombocytopenia is increasingly being recognized as a relatively common condition. This descriptive review aims at focusing on the different areas of advancement that have taken place with this condition with particular reference to India. A pubmed search of articles between January 1990 and October 2017 with the key words-macrothrombocytopenia, asymptomatic macrothrombocytopenia, macrothrombocytopenia India, syndromic macrothrombocytopenia, molecular pathology, megakaryopoiesis and platelet formation were searched. The shortlisted articles were then read. Review articles provided additional references and the articles thus obtained were also read. Special interest and research conducted by the authors provided further sources of information. A total of 487 articles were found of which 68 articles were related to our subject of review. Review articles were read and additional articles from the reference quoted. Forty-four percent of nonsyndromic Inherited macrothrombocytopenia showed mutations of MYH9, GP1BB, GP1Ba, GPIX, ABCG5 and 8, ACTN, FLI, TUBB and RUNX1 frequently in heterozygous state. All types of inheritance pattern namely autosomal dominant, recessive and sex linked patterns have been described. Syndromic causes of this phenomenon are well known and have been described. Many asymptomatic patients do have mild or moderate bleeding history. Clinical algorithms to differentiate chronic ITP associated macrothrombocytopenia from inherited variety have been explored. Inherited macrothrombocytopenia is an emerging area of interest in platelet biology with its implication in diagnosis, prognosis, genetic counseling, management and in transfusion medicine.
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Registered trials
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