RESUMEN
We conducted an inventory of state-based recommendations for follow-up of alpha thalassemia silent carrier and trait identified on newborn screen. We found wide variability in the nature and timing of these recommendations. We recommend a standardized recommendation to guide pediatricians in evidenced-based care for this population.
Asunto(s)
Cuidados Posteriores/normas , Heterocigoto , Tamizaje Neonatal , Talasemia alfa/terapia , Estudios Transversales , Humanos , Lactante , Recién Nacido , Guías de Práctica Clínica como Asunto , Estados Unidos , Talasemia alfa/diagnóstico , Talasemia alfa/genéticaRESUMEN
Recently, intrauterine transfusions and hematopoietic cell transplantation (HCT) have changed homozygous alpha-thalassemia from a frequently fatal disease to a potentially survivable condition. We present a patient with Hemoglobin Bart's disease who was cured after failing to engraft with 1 unrelated HCT, but engrafting after a second unrelated donor HCT.
Asunto(s)
Transfusión de Sangre Intrauterina , Enfermedades Fetales/terapia , Trasplante de Células Madre Hematopoyéticas , Hemoglobinas Anormales , Talasemia alfa/terapia , Quimerismo , Discapacidades del Desarrollo/etiología , Transfusión de Eritrocitos , Femenino , Enfermedades Fetales/sangre , Enfermedades Fetales/genética , Supervivencia de Injerto , Humanos , Recién Nacido , Masculino , Embarazo , Diagnóstico Prenatal , Donantes de Tejidos , Talasemia alfa/genéticaRESUMEN
Anaemia was diagnosed in four adopted children during a standard screening examination 1-4 weeks after arrival. Further investigation revealed a number of causes which could then be specifically treated. The children were a girl aged 14 months from China with iron-deficiency anaemia, a boy aged 16 months from Nigeria with sickle cell anaemia, a girl aged 5 from Haiti who had alpha-thalassaemia, and a boy aged 7 from Brazil with spherocytosis. Iron deficiency is the most common cause of anaemia in childhood. However, in adopted children from sub-tropical areas other causes of anaemia like haemoglobinopathies or erythrocyte membrane defects should be borne in mind, particularly as a history of disease and family history are often lacking. Additional investigations may be necessary. An incorrect diagnosis of iron deficiency may result in ongoing and unjustified iron supplementation leading to harmful iron accumulation in thalassaemia and a delay in the correct treatment in sickle cell anemia or spherocytosis which could carry considerable risk.
Asunto(s)
Anemia Ferropénica/diagnóstico , Anemia de Células Falciformes/diagnóstico , Anemia/etiología , Esferocitosis Hereditaria/diagnóstico , Talasemia alfa/diagnóstico , Adopción/etnología , Anemia/epidemiología , Anemia/etnología , Anemia Ferropénica/complicaciones , Anemia Ferropénica/epidemiología , Anemia Ferropénica/terapia , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/terapia , Brasil/etnología , Niño , Preescolar , China/etnología , Diagnóstico Diferencial , Femenino , Haití/etnología , Humanos , Lactante , Masculino , Tamizaje Masivo , Nigeria/etnología , Esferocitosis Hereditaria/complicaciones , Esferocitosis Hereditaria/epidemiología , Esferocitosis Hereditaria/terapia , Talasemia alfa/complicaciones , Talasemia alfa/epidemiología , Talasemia alfa/terapiaRESUMEN
A 21-month-old girl with hemoglobin Bart's hydrops received bone marrow transplantation (BMT) from a matched sibling. No major BMT-related complications developed. Hemoglobin levels remained greater than 10 gm/dl for 20 months without blood transfusion support despite the presence of residual host hemopoietic cells from 2 months after BMT. We suggest consideration of this therapeutic option for surviving patients.