Camperdown hemoglobin associated with beta° thalassemia in a Brazilian child
We report the coexistence of Hb Camperdown [beta104 (G6) Arg -> Ser] and beta°-thalassemia [beta39 (Gln -> stop codon)] in a nine-month-old Brazilian boy. He had a relatively more severe hypochromic and microcytic anemia in comparison to his mother's beta-thalassemia trait. His Hb Camperd...
Main Authors: | , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Sociedade Brasileira de Genética
2005-09-01
|
Series: | Genetics and Molecular Biology |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300010&tlng=en |
_version_ | 1818951090184388608 |
---|---|
author | Tania Regina Tozetto-Mendoza Paulo Roberto Santos Ferreira Nilcéia Maria Viviani Dulcinéia Martins Albuquerque Ivana Rizzi João Targino de Araújo |
author_facet | Tania Regina Tozetto-Mendoza Paulo Roberto Santos Ferreira Nilcéia Maria Viviani Dulcinéia Martins Albuquerque Ivana Rizzi João Targino de Araújo |
author_sort | Tania Regina Tozetto-Mendoza |
collection | DOAJ |
description | We report the coexistence of Hb Camperdown [beta104 (G6) Arg -> Ser] and beta°-thalassemia [beta39 (Gln -> stop codon)] in a nine-month-old Brazilian boy. He had a relatively more severe hypochromic and microcytic anemia in comparison to his mother's beta-thalassemia trait. His Hb Camperdown heterozygous father was clinically and hematologically normal. To our knowledge, this is the first description of an association of beta°-thalassemia with Hb Camperdown. |
first_indexed | 2024-12-20T09:28:57Z |
format | Article |
id | doaj.art-9e7abecc2be7447ea7fbfbe541f5364a |
institution | Directory Open Access Journal |
issn | 1678-4685 |
language | English |
last_indexed | 2024-12-20T09:28:57Z |
publishDate | 2005-09-01 |
publisher | Sociedade Brasileira de Genética |
record_format | Article |
series | Genetics and Molecular Biology |
spelling | doaj.art-9e7abecc2be7447ea7fbfbe541f5364a2022-12-21T19:45:09ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852005-09-0128339439610.1590/S1415-47572005000300010Camperdown hemoglobin associated with beta° thalassemia in a Brazilian childTania Regina Tozetto-MendozaPaulo Roberto Santos Ferreira0Nilcéia Maria Viviani1Dulcinéia Martins Albuquerque2Ivana Rizzi3João Targino de Araújo4Universidade de São PauloUniversidade de São PauloUniversidade Estadual de CampinasHospital Candido FontouraUniversidade de São PauloWe report the coexistence of Hb Camperdown [beta104 (G6) Arg -> Ser] and beta°-thalassemia [beta39 (Gln -> stop codon)] in a nine-month-old Brazilian boy. He had a relatively more severe hypochromic and microcytic anemia in comparison to his mother's beta-thalassemia trait. His Hb Camperdown heterozygous father was clinically and hematologically normal. To our knowledge, this is the first description of an association of beta°-thalassemia with Hb Camperdown.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300010&tlng=enhemoglobin Camperdownthalassemia |
spellingShingle | Tania Regina Tozetto-Mendoza Paulo Roberto Santos Ferreira Nilcéia Maria Viviani Dulcinéia Martins Albuquerque Ivana Rizzi João Targino de Araújo Camperdown hemoglobin associated with beta° thalassemia in a Brazilian child Genetics and Molecular Biology hemoglobin Camperdown thalassemia |
title | Camperdown hemoglobin associated with beta° thalassemia in a Brazilian child |
title_full | Camperdown hemoglobin associated with beta° thalassemia in a Brazilian child |
title_fullStr | Camperdown hemoglobin associated with beta° thalassemia in a Brazilian child |
title_full_unstemmed | Camperdown hemoglobin associated with beta° thalassemia in a Brazilian child |
title_short | Camperdown hemoglobin associated with beta° thalassemia in a Brazilian child |
title_sort | camperdown hemoglobin associated with beta° thalassemia in a brazilian child |
topic | hemoglobin Camperdown thalassemia |
url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300010&tlng=en |
work_keys_str_mv | AT taniareginatozettomendoza camperdownhemoglobinassociatedwithbetathalassemiainabrazilianchild AT paulorobertosantosferreira camperdownhemoglobinassociatedwithbetathalassemiainabrazilianchild AT nilceiamariaviviani camperdownhemoglobinassociatedwithbetathalassemiainabrazilianchild AT dulcineiamartinsalbuquerque camperdownhemoglobinassociatedwithbetathalassemiainabrazilianchild AT ivanarizzi camperdownhemoglobinassociatedwithbetathalassemiainabrazilianchild AT joaotarginodearaujo camperdownhemoglobinassociatedwithbetathalassemiainabrazilianchild |