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Year : 2018  |  Volume : 61  |  Issue : 1  |  Page : 161-162
Hyperheptaploidy in idiopathic thrombocytopenic purpura

Department of Transplant Immunology, Molecular Biology and Transfusion Medicine, Indraprastha Apollo Hospitals, New Delhi, India

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Date of Web Publication22-Mar-2018

How to cite this article:
Chowdhry M, Makroo RN, Thakur Y, Agrawal S, Mishra M, Rani D. Hyperheptaploidy in idiopathic thrombocytopenic purpura. Indian J Pathol Microbiol 2018;61:161-2

How to cite this URL:
Chowdhry M, Makroo RN, Thakur Y, Agrawal S, Mishra M, Rani D. Hyperheptaploidy in idiopathic thrombocytopenic purpura. Indian J Pathol Microbiol [serial online] 2018 [cited 2023 Sep 30];61:161-2. Available from:


Idiopathic thrombocytopenic purpura (ITP) is a condition of low platelet count of no known cause. It is a diagnosis of exclusion. As most causes appear to be related to antibodies against platelets, it is also known as ITP. Although most cases are asymptomatic, very low platelet counts can lead to a bleeding diathesis and purpuric rash. It affects the overall number of platelets rather than their function.

The study of chromosome using the conventional cytogenetic techniques requires actively dividing cells. Ploidy refers to the number of sets of chromosomes present. Thus, diploid would mean two sets of each chromosome. At times, the number of the chromosomes may vary between the two ploidy levels. Near-heptaploidy has chromosome number ranging from 150 to 172. If the chromosome is in the range of 150–160 it is named as hypoheptaploidy and if between 162 and 172 it is known as hyperheptaploidy.[1]

We have previously reported a case of hyperploidy (octaploidy) in ITP which was incidentally noticed.[2] Now, to add to that, another case of hyperheptaploidy has been noted in a case of ITP.

A 31-year-old male was admitted with a chief complaint of postprandial fullness. On routine hemogram, he was found to have very low platelets count of 10,000/mL and was diagnosed as a case of ITP after ruling out other causes of thrombocytopenia. On testing for Vitamin B12 levels, it was found to be within normal limits. He received IV methyl prednisolone 500 mg stat dose which was continued for the following 3 days, but no response was observed. Furthermore, 3 doses of IVIg were given and the patient was still unresponsive. Platelets transfusion was planned and increment of total platelet count was recorded. The details of the same are as tabulated in [Table 1]
Table 1: Platelet transfusion and increment charting

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After platelet transfusions as stated above, he was put on eltrombopag 50 mg once a day with prednisolone 40 mg OD, which was tapered by 5 mg every week. Meanwhile, his bone marrow karyotyping was also done, and chromosomal analysis revealed two cell lines. 40% of cells analyzed revealed apparently normal male karyotype. However, 60% of cells analyzed revealed a total of 162–172 chromosomes depicting hyperheptaploidy as shown in [Figure 1].
Figure 1: Metaphase: Modal number: (162–172)

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Chromosomal abnormalities in ITP are unusual. More so, polyploidy in platelet disorders has been rarely noticed as of yet. In a study by Hwang Y et al., three cases of chromosomal anomalies were noted out of 100 cases of suspected ITP. Clonal chromosomal abnormalities found were der (1;7) (q10;p10), add (9) (q12), or t (7;11) (p22;q12).[3] However, there were no polyploidy detected in any of these cases.

Vitamin B12 deficiency leads to impaired DNA synthesis resulting in G2/M phase arrest.[4] G2/M phase arrest compels the cells to remain in a tetraploid condition. Vitamin B12 might have led to G2/M phase arrest and subsequent tetraploidy. Anyhow, the octaploidy in our previous report and and hyperheptaploidy in the present case cannot be a result of the G2/M phase arrest as in the present case the Vitamin B12 level was normal.

There exists a reported case of near octaploidy in essential thrombocythemia.[5] Our previous report [2] was a case of octaploidy, now this is a case of hyperheptaploidy and both are diagnosed cases of ITP. Whether it is a chance occurrence, or it is an associated finding with ITP needs to be found out in a larger study. Repeat findings in cytogenetic analysis should provoke us to routinely karyotype cases of platelet disorders and explore this untouched field.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

   References Top

Shaffer IG, Slovak ML, Campbell LJ, editors. ISCN: An International System for Human Cytogenetic Nomenclature. Basel: S. Karger; 2009.  Back to cited text no. 1
Makroo RN, Chowdhry M, Mishra M, Srivastava P, Fauzdar A. Octaploidy in idiopathic thrombocytopenia purpura. Indian J Hum Genet 2011;17:238-40.  Back to cited text no. 2
[PUBMED]  [Full text]  
Hwang Y, Huh JW, Mun YC, Seong CM, Chung WS. Myelodysplastic syndrome mimicking idiopathic thrombocytopenic purpura. Korean J Lab Med 2010;30:105-10.  Back to cited text no. 3
Vaidya S, Vundinti BR. Octaploidy in idiopathic thrombocytopenia purpura: Is it incidental or causal? Indian J Hum Genet 2012;18:379.  Back to cited text no. 4
[PUBMED]  [Full text]  
Kwong YL, Chan AY, Wei D, Chan LC. Near-octaploidy in essential thrombocythemia. Cancer Genet Cytogenet 1993;65:74-5.  Back to cited text no. 5

Correspondence Address:
Mohit Chowdhry
Department of Transplant Immunology, Molecular Biology and Transfusion Medicine, Apollo Hospital, Sarita Vihar, Delhi Mathura Road, New Delhi - 110 076
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJPM.IJPM_225_17

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  [Figure 1]

  [Table 1]

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[Pubmed] | [DOI]


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