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...

Full description

Bibliographic Details
Main Authors: Tania Regina Tozetto-Mendoza, Paulo Roberto Santos Ferreira, Nilcéia Maria Viviani, Dulcinéia Martins Albuquerque, Ivana Rizzi, João Targino de Araújo
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