Hb I-Toulouse in association with homozygosity for the α3.7 deletion in a Pacific Island woman
<p>Only four cases of Hb I-Toulouse have been reported to date. Current literature associates Hb I-Toulouse in the heterozygote with a mild chronic hemolytic anemia. The variant is mildly unstable with a tendency to form metHb. The quantity of the variant in heterozygotes has been reported as...
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| Format: | Article |
| Language: | English |
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MDPI AG
2016-11-01
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| Series: | Thalassemia Reports |
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| Online Access: | http://www.pagepressjournals.org/index.php/thal/article/view/6044 |
| _version_ | 1797966820575019008 |
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| author | Beverley Pullon |
| author_facet | Beverley Pullon |
| author_sort | Beverley Pullon |
| collection | DOAJ |
| description | <p>Only four cases of Hb I-Toulouse have been reported to date. Current literature associates Hb I-Toulouse in the heterozygote with a mild chronic hemolytic anemia. The variant is mildly unstable with a tendency to form metHb. The quantity of the variant in heterozygotes has been reported as varying between 33 to 40%. This report confirms the finding from a single case, that a reduced percentage of Hb IToulouse along with microcytosis can be attributed to the co-inheritance of an abnormal α globin genotype. This current case was found in a woman of Pacific People ethnicity residing in New Zealand. There is a high prevalence of α thalassemia in this ethnic group and New Zealand has the highest Pacific population in the world. Therefore, if a reduced percentage of Hb I-Toulouse is found with microcytosis and normal iron studies, co-inheritance with α thalassemia should be considered.</p><p> </p><p>目前仅有四例Hb I-Toulouse的病例报告。 当前的文献将杂合子中的Hb I-Toulouse与慢性溶血性贫血相关联。 这种变异体轻度不稳定，有形成高铁血红蛋白（metHb）的倾向。 杂合子中变异体数量据报道为33%至40%不等。 本报告证实从单一病例得到的结果，即伴有小红细胞症的更低Hb I-Toulouse百分比可被归结为异常α球蛋白基因型的合并遗传。 该例当前病例在一名居住在新西兰的太平洋诸岛族裔女性身上发现。 在这个族群中存在较高的α地中海贫血患病率，而在全世界新西兰的太平洋诸岛族裔人口最多。 因此，如果发现Hb I-Toulouse的百分比更低，同时伴有小红细胞症并且检查铁含量正常，则应考虑α地中海贫血的合并遗传。</p> |
| first_indexed | 2024-04-11T02:21:23Z |
| format | Article |
| id | doaj.art-47027c2ecfae4ec18700427808ca2b35 |
| institution | Directory Open Access Journal |
| issn | 2039-4357 2039-4365 |
| language | English |
| last_indexed | 2024-04-11T02:21:23Z |
| publishDate | 2016-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Thalassemia Reports |
| spelling | doaj.art-47027c2ecfae4ec18700427808ca2b352023-01-02T23:41:00ZengMDPI AGThalassemia Reports2039-43572039-43652016-11-016110.4081/thal.2016.60445012Hb I-Toulouse in association with homozygosity for the α3.7 deletion in a Pacific Island womanBeverley Pullon0Hematology Department, Waikato Hospital<p>Only four cases of Hb I-Toulouse have been reported to date. Current literature associates Hb I-Toulouse in the heterozygote with a mild chronic hemolytic anemia. The variant is mildly unstable with a tendency to form metHb. The quantity of the variant in heterozygotes has been reported as varying between 33 to 40%. This report confirms the finding from a single case, that a reduced percentage of Hb IToulouse along with microcytosis can be attributed to the co-inheritance of an abnormal α globin genotype. This current case was found in a woman of Pacific People ethnicity residing in New Zealand. There is a high prevalence of α thalassemia in this ethnic group and New Zealand has the highest Pacific population in the world. Therefore, if a reduced percentage of Hb I-Toulouse is found with microcytosis and normal iron studies, co-inheritance with α thalassemia should be considered.</p><p> </p><p>目前仅有四例Hb I-Toulouse的病例报告。 当前的文献将杂合子中的Hb I-Toulouse与慢性溶血性贫血相关联。 这种变异体轻度不稳定，有形成高铁血红蛋白（metHb）的倾向。 杂合子中变异体数量据报道为33%至40%不等。 本报告证实从单一病例得到的结果，即伴有小红细胞症的更低Hb I-Toulouse百分比可被归结为异常α球蛋白基因型的合并遗传。 该例当前病例在一名居住在新西兰的太平洋诸岛族裔女性身上发现。 在这个族群中存在较高的α地中海贫血患病率，而在全世界新西兰的太平洋诸岛族裔人口最多。 因此，如果发现Hb I-Toulouse的百分比更低，同时伴有小红细胞症并且检查铁含量正常，则应考虑α地中海贫血的合并遗传。</p>http://www.pagepressjournals.org/index.php/thal/article/view/6044I-Toulousealpha thalassemiahomozygosity-α3.7Pacific PeopleNew Zealand. |
| spellingShingle | Beverley Pullon Hb I-Toulouse in association with homozygosity for the α3.7 deletion in a Pacific Island woman Thalassemia Reports I-Toulouse alpha thalassemia homozygosity-α3.7 Pacific People New Zealand. |
| title | Hb I-Toulouse in association with homozygosity for the α3.7 deletion in a Pacific Island woman |
| title_full | Hb I-Toulouse in association with homozygosity for the α3.7 deletion in a Pacific Island woman |
| title_fullStr | Hb I-Toulouse in association with homozygosity for the α3.7 deletion in a Pacific Island woman |
| title_full_unstemmed | Hb I-Toulouse in association with homozygosity for the α3.7 deletion in a Pacific Island woman |
| title_short | Hb I-Toulouse in association with homozygosity for the α3.7 deletion in a Pacific Island woman |
| title_sort | hb i toulouse in association with homozygosity for the α3 7 deletion in a pacific island woman |
| topic | I-Toulouse alpha thalassemia homozygosity-α3.7 Pacific People New Zealand. |
| url | http://www.pagepressjournals.org/index.php/thal/article/view/6044 |
| work_keys_str_mv | AT beverleypullon hbitoulouseinassociationwithhomozygosityforthea37deletioninapacificislandwoman |