首例血红蛋白Groene Hart纯合子[α119(H2)脯氨酸→丝氨酸，CCT→TCT(α1)]证实了地中海贫血表型与这种异常血红蛋白变异体相关。
The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant.
作者信息
Giordano Piero C, Zweegman Sonja, Akkermans Nicole, Arkesteijn Sandra G J, van Delft Peter, Versteegh Florens G A, Wajcman Henri, Harteveld Cornelis L
机构信息
The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
出版信息
Hemoglobin. 2007;31(2):179-82. doi: 10.1080/03630260701289490.
Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] has been reported in heterozygotes of Moroccan origin and also in association with the common -alpha(3.7) deletion. In all cases, the mutated protein was not detectable but was apparently associated with a mild alpha-thalassemia (thal) phenotype, presumably due to a modification of the alpha-globin chain domain that is recognized by the a hemoglobin stabilizing protein (AHSP). The present case of Hb Groene Hart homozygosity, confirms that the alpha-thal phenotype is associated with this alpha-globin chain. Hb Groene Hart must be quite frequent not only in Morocco but probably also among the northern African coastal population.
血红蛋白格罗内哈特[α119(H2)脯氨酸→丝氨酸，CCT→TCT(α1)]已在摩洛哥血统的杂合子中被报道，也与常见的-α(3.7)缺失相关。在所有病例中，突变蛋白无法检测到，但显然与轻度α地中海贫血（thal）表型相关，推测是由于α珠蛋白链结构域被血红蛋白稳定蛋白（AHSP）识别后发生了改变。本例血红蛋白格罗内哈特纯合子病例证实，α地中海贫血表型与这种α珠蛋白链相关。血红蛋白格罗内哈特不仅在摩洛哥可能相当常见，在北非沿海人群中可能也很常见。
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