Interaction of five globin gene abnormalities in a Cambodian family.
Members of a Cambodian family with an undiagnosed hypochromic, microcytic anaemia were found by haemoglobin and DNA analysis to have five interacting globin gene abnormalities. One child has Hb E and typical Hb H disease, while his mother has the form of Hb H disease associated with Hb Constant Spri...
| Main Authors: | , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
1986
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| _version_ | 1797061491654918144 |
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| author | Simpkins, H Hill, A Derry, S Clegg, J Weatherall, D |
| author_facet | Simpkins, H Hill, A Derry, S Clegg, J Weatherall, D |
| author_sort | Simpkins, H |
| collection | OXFORD |
| description | Members of a Cambodian family with an undiagnosed hypochromic, microcytic anaemia were found by haemoglobin and DNA analysis to have five interacting globin gene abnormalities. One child has Hb E and typical Hb H disease, while his mother has the form of Hb H disease associated with Hb Constant Spring interacting with Hb E. Quantitation of Hbs E and A2 by globin chain separation and triton/urea gel electrophoresis support the concept that Hb H/Constant Spring disease is a more severe form of alpha thalassaemia than Hb H disease. This family illustrates how the remarkably high prevalence of globin gene abnormalities in Southeast Asians can give rise to a series of atypical thalassaemic phenotypes, and how they can be defined by direct globin gene analysis. |
| first_indexed | 2024-03-06T20:31:56Z |
| format | Journal article |
| id | oxford-uuid:3157c4f8-f1b6-417c-8636-b558188ed265 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T20:31:56Z |
| publishDate | 1986 |
| record_format | dspace |
| spelling | oxford-uuid:3157c4f8-f1b6-417c-8636-b558188ed2652022-03-26T13:07:20ZInteraction of five globin gene abnormalities in a Cambodian family.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:3157c4f8-f1b6-417c-8636-b558188ed265EnglishSymplectic Elements at Oxford1986Simpkins, HHill, ADerry, SClegg, JWeatherall, DMembers of a Cambodian family with an undiagnosed hypochromic, microcytic anaemia were found by haemoglobin and DNA analysis to have five interacting globin gene abnormalities. One child has Hb E and typical Hb H disease, while his mother has the form of Hb H disease associated with Hb Constant Spring interacting with Hb E. Quantitation of Hbs E and A2 by globin chain separation and triton/urea gel electrophoresis support the concept that Hb H/Constant Spring disease is a more severe form of alpha thalassaemia than Hb H disease. This family illustrates how the remarkably high prevalence of globin gene abnormalities in Southeast Asians can give rise to a series of atypical thalassaemic phenotypes, and how they can be defined by direct globin gene analysis. |
| spellingShingle | Simpkins, H Hill, A Derry, S Clegg, J Weatherall, D Interaction of five globin gene abnormalities in a Cambodian family. |
| title | Interaction of five globin gene abnormalities in a Cambodian family. |
| title_full | Interaction of five globin gene abnormalities in a Cambodian family. |
| title_fullStr | Interaction of five globin gene abnormalities in a Cambodian family. |
| title_full_unstemmed | Interaction of five globin gene abnormalities in a Cambodian family. |
| title_short | Interaction of five globin gene abnormalities in a Cambodian family. |
| title_sort | interaction of five globin gene abnormalities in a cambodian family |
| work_keys_str_mv | AT simpkinsh interactionoffiveglobingeneabnormalitiesinacambodianfamily AT hilla interactionoffiveglobingeneabnormalitiesinacambodianfamily AT derrys interactionoffiveglobingeneabnormalitiesinacambodianfamily AT cleggj interactionoffiveglobingeneabnormalitiesinacambodianfamily AT weatheralld interactionoffiveglobingeneabnormalitiesinacambodianfamily |