Artículo hemato

HAbstract
The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Non-sickling disorders are found primarily in individuals of Mediterranean, Asian and Southeast Asian ancestry. With rapid growth in the Asian and Hispanic segments of the US population, the geographic distribution of hemoglobinopathies isexpected to become significantly different from what it is today. The epidemiologic changes in the prevalence of non-sickling hemoglobin disorders have important implications for future public health programs, including newborn screening.
El hemoglobinopathies abarca un grupo heterogéneo de desórdenes asociados con mutaciones tanto en los genes alfa-globin como en beta-globin. Non-sickling desórdenesson encontrados principalmente en los individuos de Mediterráneo, el linaje asiático y del sudeste asiático. Con el crecimiento rápido en los segmentos asiáticos e hispanos de población de los EU, esperan la distribución geográfica de hemoglobinopathies para hacerse considerablemente diferentes de lo que es hoy. Los cambios de epidemiologic del predominio de desórdenes de hemoglobina non-sicklingtienen implicaciones importantes para futuros programas de salud pública, incluyendo la selección recién nacida.
The purpose of newborn screening for hemoglobinopathies is to identify clinically significant disorders and provide early education and specialized care prior to the onset of clinical symptoms. Although newborn screening for sickle cell disease is mandated in all states, screening fornon-sickling hemoglobinopathies is directed in only one state and limited to reporting of a presumptive diagnosis in most other states. Early delivery of comprehensive care, as well as new and potentially curative therapies, has significantly improved the prognosis for affected patients. This review will consider the increasing prevalence of once uncommon hemoglobinopathies in the US,highlighting the rationale for expanding newborn screening beyond sickle cell disorders.
El objetivo de selección de recién nacido para hemoglobinopathies es de identificar desórdenes clínicamente significativos y proporcionar la temprana educación y se especializó el cuidado antes del inicio de síntomas clínicos. Aunque la selección de recién nacido para la enfermedad de célula de hoz sea conferida pormandato en todos los estados, que protegen para non-sickling hemoglobinopathies es dirigido en sólo un estado y limitado al reportaje de un diagnóstico presunto en la mayor parte de otros estados. La temprana entrega de cuidado comprensivo, así como terapias nuevas y potencialmente curativas, considerablemente ha mejorado el pronóstico para pacientes afectados. Esta revisión considerará elpredominio creciente de una vez hemoglobinopathies raro en EU, destacando la exposición razonada para ampliar la selección de recién nacido más allá de desórdenes de célula de hoz.
Historical Perspective
In the US, newborn screening has evolved from isolated testing for a few metabolic disorders to universal screening for more than 30 different genetic disorders, including sickle cell disease and otherhemoglobinopathies. All 50 states and the District of Columbia now require that every newborn be screened for sickle cell disease as recommended by the American College of Medical Genetics (ACMG) and endorsed by the March of Dimes.1 In most states, the purpose of the newborn screening for hemoglobin disorders is to identify infants with sickle cell–related conditions in order to preventlife-threatening infection through early initiation of penicillin prophylaxis.2 However, concurrent screening for non-sickling disorders, such as β thalassemia and Hb H disease, is not mandated and is often limited to making a presumptive diagnosis that requires confirmation outside of the newborn screening program. Confirmatory testing and follow up of these infants then becomes the responsibility of the...