Mañú Pereira María Del Mar, Cabot Anna, Martínez González Ana, Sitjà Navarro Eulalia, Cararach Vicent, Sabrià Josep, Boixaderas Jordi, Teixidor Roser, Bosch Albert, López Vílchez M Angeles, Martín Ibáñez Itziar, Carrión Teresa, Plaja Pere, Sánchez Mario, Vives Corrons José Luis
Unidad de Eritropatología, Hospital Clínic i Provincial de Barcelona, Barcelona, España.
Med Clin (Barc). 2007 Jun 30;129(5):161-4. doi: 10.1157/13107791.
The prevalence of hemoglobinopathies and glucose-6-phosphate dehidrogenase (G6PD) deficiency in the Catalan neonatal population is increasing due to immigration. Coinheritance of more than a single RBC genetic defect is becoming more frequent and diagnostic pitfalls are also increasing. We intended to demonstrate the need to perform an early diagnosis of sickle cell disease (SCD) by means of neonatal screening, to establish the prevalence of SCD associated with alpha thalassemia and G6PD deficiency and to identify genotypes associated with sickle cell disease and G6PD deficiency.
4,020 blood samples from newborns were screened. For the screening of hemoglobinopathies the high performance liquid chromatography method was used and for G6PD deficiency the fluorescent spot test was employed. We studied the association between betaS gene and alpha thalassaemia del-3.7 Kb. SCD and G6PD deficiency genotypes were established.
Prevalence of SCD in population at risk was 1/475 newborns. Prevalence of G6PD deficiency in population at risk was 1/43, and in autochthonous population was 1/527 newborns. In all the cases, sickle hemoglobin was confirmed by ARMS (amplification refractory mutation system). Association between betaS gene and alpha thalassaemia del-3.7 Kb was found in 32.2% of the samples, and an association between betaS gene and G6PD deficiency was observed in 7% of the samples.
This study confirms the high prevalence of SCD and G6PD deficiency in population at risk as well as their genetic and clinical heterogeneity. The study of genotype/phenotype relationships allows a better knowledge of molecular mechanism and is useful to establish suitable criteria of diagnosis.
由于移民，加泰罗尼亚新生儿群体中血红蛋白病和葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的患病率正在上升。多种红细胞遗传缺陷的共同遗传变得越来越普遍，诊断陷阱也在增加。我们旨在证明通过新生儿筛查对镰状细胞病（SCD）进行早期诊断的必要性，确定与α地中海贫血和G6PD缺乏症相关的SCD患病率，并识别与镰状细胞病和G6PD缺乏症相关的基因型。
对4020份新生儿血样进行筛查。采用高效液相色谱法筛查血红蛋白病，采用荧光斑点试验检测G6PD缺乏症。我们研究了βS基因与α地中海贫血del-3.7 Kb之间的关联。确定了SCD和G6PD缺乏症的基因型。
高危人群中SCD的患病率为1/475新生儿。高危人群中G6PD缺乏症的患病率为1/43，本地人群中为1/527新生儿。在所有病例中，通过ARMS（扩增阻滞突变系统）确认了镰状血红蛋白。在32.2%的样本中发现βS基因与α地中海贫血del-3.7 Kb之间存在关联，在7%的样本中观察到βS基因与G6PD缺乏症之间存在关联。
本研究证实了高危人群中SCD和G6PD缺乏症的高患病率及其遗传和临床异质性。对基因型/表型关系的研究有助于更好地了解分子机制，并有助于建立合适的诊断标准。
