Treatment of alpha(0)-thalassemia (--(SEA)/--(SEA)) via serial fetal and post-natal transfusions: Can early fetal intervention improve outcomes?

[alpha-thalassemia]

Objective and importance Homozygous Southeast Asian alpha-thalassemia mutation (--(SEA )/--(SEA )) results in deletion of all alpha-globin genes (alpha (0 )-thalassemia ). Since all alpha-globin chains are absent , hemoglobin F can not be synthesized , and hemoglobin Bart 's becomes the dominant fetal hemoglobin . Hemoglobin Bart 's is a Î³ tetramer with a very high oxygen affinity , thus oxygen delivery to the tissues is poor . Clinical manifestations include severe fetal anemia , hydrops fetalis , fetal demise , and high risk of neurodevelopmental impairment in the rare survivors . Clinical presentation A 39 -year -old Vietnamese woman presented to our center at 28 0 /7 weeks ' gestation with fetal alpha (0 )-thalassemia (--(SEA )/--(SEA ) type deletion ) and ultrasound markers suggestive of severe fetal anemia . Intervention The fetus was treated with four intrauterine transfusions followed by post-natal chronic transfusions . Formal neurodevelopmental testing (Battelle Developmental Inventory , Second Edition ) was performed at 18 months of age , and the developmental quotient was 93 (32nd percentile ) with all subdomains noted within normal limits , indicating overall intact neurodevelopment . Conclusion We posit that earlier diagnosis and fetal treatment , prior to clinical findings suggestive of fetal anemia , may improve long -term outcomes by enhancing oxygen delivery to the tissues of the developing fetus .

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Diseases presenting "asian alpha-thalassemia mutation" symptom

alpha-thalassemia

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