Delta beta thalassemia, a rare hemoglobin variant: An experience from nodal centre in North Indian state
CONTEXT: Fetal hemoglobin (HbF) reduces to <1% few months after birth. However, it can persist beyond infancy into adult life in rare conditions such as delta-beta (δβ) thalassemia and hereditary persistence of HbF. δβ thalassemia is a relatively rare type of thalassemia due to decrease in both b...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | Journal of Applied Hematology |
| Subjects: | |
| Online Access: | http://www.jahjournal.org/article.asp?issn=1658-5127;year=2022;volume=13;issue=1;spage=1;epage=4;aulast=Jain |
| _version_ | 1828729269323300864 |
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| author | Promil Jain Nisha Marwah Niti Dalal Richa Pawar Meenu Gill Sanjay Kumar |
| author_facet | Promil Jain Nisha Marwah Niti Dalal Richa Pawar Meenu Gill Sanjay Kumar |
| author_sort | Promil Jain |
| collection | DOAJ |
| description | CONTEXT: Fetal hemoglobin (HbF) reduces to <1% few months after birth. However, it can persist beyond infancy into adult life in rare conditions such as delta-beta (δβ) thalassemia and hereditary persistence of HbF. δβ thalassemia is a relatively rare type of thalassemia due to decrease in both beta and delta globin chain production.
AIMS: This study aims to assess the hematological and high-performance liquid chromatography (HPLC) findings in δβ thalassemia.
SETTINGS AND DESIGN: Cross-sectional observational study.
SUBJECTS AND METHODS: The study was conducted in department of Clinical Pathology, PGIMS, Rohtak. On screening of 1197 patients over a period of around 1 year, a total of 13 cases of δβ thalassemia were detected by HPLC.
STATISTICAL ANALYSIS USED: Not done.
RESULTS: The age of presentation ranged from 1 to 42 years with a mean age of 22.8 years. Eleven cases were diagnosed as heterozygous δβ thalassemia and two as homozygous δβ thalassemia.
CONCLUSIONS: δβ thalassemia is an uncommon cause of elevated HbF. Clinical and hematological parameters should be carefully analyzed for accurate diagnosis. |
| first_indexed | 2024-04-12T14:30:52Z |
| format | Article |
| id | doaj.art-be81454ee4204d47a8ba24b8c5d0bdaa |
| institution | Directory Open Access Journal |
| issn | 1658-5127 |
| language | English |
| last_indexed | 2024-04-12T14:30:52Z |
| publishDate | 2022-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Applied Hematology |
| spelling | doaj.art-be81454ee4204d47a8ba24b8c5d0bdaa2022-12-22T03:29:18ZengWolters Kluwer Medknow PublicationsJournal of Applied Hematology1658-51272022-01-011311410.4103/joah.joah_198_20Delta beta thalassemia, a rare hemoglobin variant: An experience from nodal centre in North Indian statePromil JainNisha MarwahNiti DalalRicha PawarMeenu GillSanjay KumarCONTEXT: Fetal hemoglobin (HbF) reduces to <1% few months after birth. However, it can persist beyond infancy into adult life in rare conditions such as delta-beta (δβ) thalassemia and hereditary persistence of HbF. δβ thalassemia is a relatively rare type of thalassemia due to decrease in both beta and delta globin chain production. AIMS: This study aims to assess the hematological and high-performance liquid chromatography (HPLC) findings in δβ thalassemia. SETTINGS AND DESIGN: Cross-sectional observational study. SUBJECTS AND METHODS: The study was conducted in department of Clinical Pathology, PGIMS, Rohtak. On screening of 1197 patients over a period of around 1 year, a total of 13 cases of δβ thalassemia were detected by HPLC. STATISTICAL ANALYSIS USED: Not done. RESULTS: The age of presentation ranged from 1 to 42 years with a mean age of 22.8 years. Eleven cases were diagnosed as heterozygous δβ thalassemia and two as homozygous δβ thalassemia. CONCLUSIONS: δβ thalassemia is an uncommon cause of elevated HbF. Clinical and hematological parameters should be carefully analyzed for accurate diagnosis.http://www.jahjournal.org/article.asp?issn=1658-5127;year=2022;volume=13;issue=1;spage=1;epage=4;aulast=Jaindelta-beta thalassemiafetal hemoglobinheterozygoushigh-performance liquid chromatographyhomozygous |
| spellingShingle | Promil Jain Nisha Marwah Niti Dalal Richa Pawar Meenu Gill Sanjay Kumar Delta beta thalassemia, a rare hemoglobin variant: An experience from nodal centre in North Indian state Journal of Applied Hematology delta-beta thalassemia fetal hemoglobin heterozygous high-performance liquid chromatography homozygous |
| title | Delta beta thalassemia, a rare hemoglobin variant: An experience from nodal centre in North Indian state |
| title_full | Delta beta thalassemia, a rare hemoglobin variant: An experience from nodal centre in North Indian state |
| title_fullStr | Delta beta thalassemia, a rare hemoglobin variant: An experience from nodal centre in North Indian state |
| title_full_unstemmed | Delta beta thalassemia, a rare hemoglobin variant: An experience from nodal centre in North Indian state |
| title_short | Delta beta thalassemia, a rare hemoglobin variant: An experience from nodal centre in North Indian state |
| title_sort | delta beta thalassemia a rare hemoglobin variant an experience from nodal centre in north indian state |
| topic | delta-beta thalassemia fetal hemoglobin heterozygous high-performance liquid chromatography homozygous |
| url | http://www.jahjournal.org/article.asp?issn=1658-5127;year=2022;volume=13;issue=1;spage=1;epage=4;aulast=Jain |
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