Congenital Familial Erythrocytosis: A case report with a review
Abstract Familial erythrocytosis is a heterogeneous group of hereditary conditions with an increased total RBC volume. The disease occurs in a familial pattern and follows a relatively benign course. The absence of leukocytosis and thrombocytosis differentiates it from polycythemia vera. The best c...
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| Format: | Article |
| Language: | English |
| Published: |
Mattioli1885
2014-08-01
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| Series: | Mediterranean Journal of Hematology and Infectious Diseases |
| Subjects: | |
| Online Access: | https://mjhid.org/index.php/mjhid/article/view/1847 |
| _version_ | 1819105681306812416 |
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| author | Muqtasid Ahmad Kamili Ishrat Hussain Dar Showkat Hussain Dar Mohammed Ismail Quadri Hardeep Singh Wazir Aijaz Arshad Bhat |
| author_facet | Muqtasid Ahmad Kamili Ishrat Hussain Dar Showkat Hussain Dar Mohammed Ismail Quadri Hardeep Singh Wazir Aijaz Arshad Bhat |
| author_sort | Muqtasid Ahmad Kamili |
| collection | DOAJ |
| description | Abstract
Familial erythrocytosis is a heterogeneous group of hereditary conditions with an increased total RBC volume. The disease occurs in a familial pattern and follows a relatively benign course. The absence of leukocytosis and thrombocytosis differentiates it from polycythemia vera. The best characterized primary erythrocytosis is the autosomal dominant primary familial and congenital polycythemia (PFCP). In most families, erythrocytosis is due to an abnormal hemoglobin with increased oxygen affinity. In other families, erythrocytosis is caused by an autonomous production of erythropoietin. Erythropoietin receptor (EPOR) gene mutations are also responsible for erythrocytosis when no secondary causes are apparent. Presented herein is a family with familial erythrocytosis possibly due to high autonomous production of erythropoietin, which as per the literature is the first of its kind in the Indian context.
Key words: Congenital polycythemia, erythrocytosis, erythropoietin, abnormal hemoglobin, erythropoietin receptor, gene mutation. |
| first_indexed | 2024-12-22T02:26:07Z |
| format | Article |
| id | doaj.art-2f8a700f929442f180ed533ba47bec5b |
| institution | Directory Open Access Journal |
| issn | 2035-3006 |
| language | English |
| last_indexed | 2024-12-22T02:26:07Z |
| publishDate | 2014-08-01 |
| publisher | Mattioli1885 |
| record_format | Article |
| series | Mediterranean Journal of Hematology and Infectious Diseases |
| spelling | doaj.art-2f8a700f929442f180ed533ba47bec5b2022-12-21T18:42:00ZengMattioli1885Mediterranean Journal of Hematology and Infectious Diseases2035-30062014-08-011Congenital Familial Erythrocytosis: A case report with a reviewMuqtasid Ahmad Kamili0Ishrat Hussain Dar1Showkat Hussain Dar2Mohammed Ismail Quadri3Hardeep Singh Wazir4Aijaz Arshad Bhat5Former Prof & Head Dept of Medicine Govt Medical College Srinagar Jammu & Kashmir India - 190010.Consultant Dept of Medicine Govt Medical College Srinagar Jammu & Kashmir India - 190010.Physician Specialist Dept of Medicine Govt Medical College Srinagar Jammu & Kashmir India - 190010Former Prof & Head Dept of Blood Transfusion & Haematology Govt Medical College Srinagar Jammu & Kashmir India - 190010Associate Professor Dept of Medicine Govt Medical College Srinagar Jammu & Kashmir India - 190010Registrar Dept of Medicine Govt Medical College Srinagar Jammu & Kashmir India - 190010Abstract Familial erythrocytosis is a heterogeneous group of hereditary conditions with an increased total RBC volume. The disease occurs in a familial pattern and follows a relatively benign course. The absence of leukocytosis and thrombocytosis differentiates it from polycythemia vera. The best characterized primary erythrocytosis is the autosomal dominant primary familial and congenital polycythemia (PFCP). In most families, erythrocytosis is due to an abnormal hemoglobin with increased oxygen affinity. In other families, erythrocytosis is caused by an autonomous production of erythropoietin. Erythropoietin receptor (EPOR) gene mutations are also responsible for erythrocytosis when no secondary causes are apparent. Presented herein is a family with familial erythrocytosis possibly due to high autonomous production of erythropoietin, which as per the literature is the first of its kind in the Indian context. Key words: Congenital polycythemia, erythrocytosis, erythropoietin, abnormal hemoglobin, erythropoietin receptor, gene mutation.https://mjhid.org/index.php/mjhid/article/view/1847Congenital polycythemiaerythrocytosiserythropoietinabnormal hemoglobinerythropoietin receptorgene mutation. |
| spellingShingle | Muqtasid Ahmad Kamili Ishrat Hussain Dar Showkat Hussain Dar Mohammed Ismail Quadri Hardeep Singh Wazir Aijaz Arshad Bhat Congenital Familial Erythrocytosis: A case report with a review Mediterranean Journal of Hematology and Infectious Diseases Congenital polycythemia erythrocytosis erythropoietin abnormal hemoglobin erythropoietin receptor gene mutation. |
| title | Congenital Familial Erythrocytosis: A case report with a review |
| title_full | Congenital Familial Erythrocytosis: A case report with a review |
| title_fullStr | Congenital Familial Erythrocytosis: A case report with a review |
| title_full_unstemmed | Congenital Familial Erythrocytosis: A case report with a review |
| title_short | Congenital Familial Erythrocytosis: A case report with a review |
| title_sort | congenital familial erythrocytosis a case report with a review |
| topic | Congenital polycythemia erythrocytosis erythropoietin abnormal hemoglobin erythropoietin receptor gene mutation. |
| url | https://mjhid.org/index.php/mjhid/article/view/1847 |
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