Symptomatic HbD trait with co inheritance of Hereditary Spherocytosis in an adult female
A 45 year old female presented with weakness, jaundice, pain abdomen of long duration . Physical examination revealed pallor, icterus and hepato-spleenomegaly. Hb electrophoresis by High performance Liquid Chromatography (HPLC) suggested heterozygous HbD trait. Other laboratory findings showed...
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| Format: | Article |
| Language: | English |
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PAGEPress Publications
2014-08-01
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| Series: | Mediterranean Journal of Hematology and Infectious Diseases |
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| Online Access: | https://mjhid.org/index.php/mjhid/article/view/1856 |
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| author | Suresh Sharma Sangram Mangudkar Ramdas Joshi Ram Ashok Bihade Kiran Shinde Ajinkya Dhakane Ram Barure Subodh Garg Suryaprakash Kothe Sukrit Sethi |
| author_facet | Suresh Sharma Sangram Mangudkar Ramdas Joshi Ram Ashok Bihade Kiran Shinde Ajinkya Dhakane Ram Barure Subodh Garg Suryaprakash Kothe Sukrit Sethi |
| author_sort | Suresh Sharma |
| collection | DOAJ |
| description | A 45 year old female presented with weakness, jaundice, pain abdomen of long duration . Physical examination revealed pallor, icterus and hepato-spleenomegaly. Hb electrophoresis by High performance Liquid Chromatography (HPLC) suggested heterozygous HbD trait. Other laboratory findings showed anaemia, reticulocytosis, indirect hyperbillurubenemia, presence of spherocytes, increased osmotic fragility and negative Direct antiglobulin test. Patient was diagnosed to be having HbD trait with hereditary spherocytosis (HS). HbD trait and HS are both due to mutations in different chromosomes. We report the first case to be having co-inheritance of both the conditions in literature by search in PubMed till Oct 2012. |
| format | Article |
| id | doaj-art-7e6ce3e12b0247289e47980896b49715 |
| institution | Kabale University |
| issn | 2035-3006 |
| language | English |
| publishDate | 2014-08-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Mediterranean Journal of Hematology and Infectious Diseases |
| spelling | doaj-art-7e6ce3e12b0247289e47980896b497152025-01-02T10:41:43ZengPAGEPress PublicationsMediterranean Journal of Hematology and Infectious Diseases2035-30062014-08-011Symptomatic HbD trait with co inheritance of Hereditary Spherocytosis in an adult femaleSuresh Sharma0Sangram Mangudkar1Ramdas Joshi2Ram Ashok Bihade3Kiran Shinde4Ajinkya Dhakane5Ram Barure6Subodh Garg7Suryaprakash Kothe8Sukrit Sethi9Padmashree Dr. D. Y. Patil Medical College Hospital and Research CenterPadmashree. D. Y Patil Medical College Hospital and Research centerPadmashree. D. Y Patil Medical College Hospital and Research centerPadmashree. D. Y Patil Medical College Hospital and Research centerPadmashree. D. Y Patil Medical College Hospital and Research centerPadmashree. D. Y Patil Medical College Hospital and Research centerPadmashree. D. Y Patil Medical College Hospital and Research centerPadmashree. D. Y Patil Medical College Hospital and Research centerPadmashree. D. Y Patil Medical College Hospital and Research centerPadmashree. D. Y Patil Medical College Hospital and Research centerA 45 year old female presented with weakness, jaundice, pain abdomen of long duration . Physical examination revealed pallor, icterus and hepato-spleenomegaly. Hb electrophoresis by High performance Liquid Chromatography (HPLC) suggested heterozygous HbD trait. Other laboratory findings showed anaemia, reticulocytosis, indirect hyperbillurubenemia, presence of spherocytes, increased osmotic fragility and negative Direct antiglobulin test. Patient was diagnosed to be having HbD trait with hereditary spherocytosis (HS). HbD trait and HS are both due to mutations in different chromosomes. We report the first case to be having co-inheritance of both the conditions in literature by search in PubMed till Oct 2012.https://mjhid.org/index.php/mjhid/article/view/1856HbD traitHereditary SpherocytosisHemolytic anaemia |
| spellingShingle | Suresh Sharma Sangram Mangudkar Ramdas Joshi Ram Ashok Bihade Kiran Shinde Ajinkya Dhakane Ram Barure Subodh Garg Suryaprakash Kothe Sukrit Sethi Symptomatic HbD trait with co inheritance of Hereditary Spherocytosis in an adult female Mediterranean Journal of Hematology and Infectious Diseases HbD trait Hereditary Spherocytosis Hemolytic anaemia |
| title | Symptomatic HbD trait with co inheritance of Hereditary Spherocytosis in an adult female |
| title_full | Symptomatic HbD trait with co inheritance of Hereditary Spherocytosis in an adult female |
| title_fullStr | Symptomatic HbD trait with co inheritance of Hereditary Spherocytosis in an adult female |
| title_full_unstemmed | Symptomatic HbD trait with co inheritance of Hereditary Spherocytosis in an adult female |
| title_short | Symptomatic HbD trait with co inheritance of Hereditary Spherocytosis in an adult female |
| title_sort | symptomatic hbd trait with co inheritance of hereditary spherocytosis in an adult female |
| topic | HbD trait Hereditary Spherocytosis Hemolytic anaemia |
| url | https://mjhid.org/index.php/mjhid/article/view/1856 |
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