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Clinical Course of Homozygous Hemoglobin Constant Spring in Pediatric Patients

Komvilaisak, Patcharee MD*; Jetsrisuparb, Arunee MD*; Fucharoen, Goonnapa MSc; Komwilaisak, Ratana MD; Jirapradittha, Junya MD*; Kiatchoosakun, Pakaphan MD*

Journal of Pediatric Hematology/Oncology: July 2018 - Volume 40 - Issue 5 - p 409–412
doi: 10.1097/MPH.0000000000001160
Clinical and Laboratory Observations
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Background: Hemoglobin (Hb) Constant Spring is an alpha-globin gene variant due to a mutation of the stop codon resulting in the elongation of the encoded polypeptide from 141 to 172 amino acid residues. Patients with homozygous Hb Constant Spring are usually mildly anemic.

Methods: We retrospectively describe clinical manifestations, diagnosis, laboratory investigations, treatment, and associated findings in pediatric patients with homozygous Hb Constant Spring followed-up at Srinagarind Hospital.

Results: Sixteen pediatric cases (5 males and 11 females) were diagnosed in utero (N=6) or postnatal (n=10). Eleven cases were diagnosed with homozygous Hb Constant Spring, 4 with homozygous Hb Constant Spring with heterozygous Hb E, and 1 with homozygous Hb Constant Spring with homozygous Hb E. Three cases were delivered preterm. Six patients had low birth weights. Clinical manifestations included fetal anemia in 6 cases, hepatomegaly in 1 case, hepatosplenomegaly in 2 cases, splenomegaly in 1 case. Twelve cases exhibited early neonatal jaundice, 9 of which required phototherapy. Six cases received red cell transfusions; 1 (3), >1 (3). After the first few months of life, almost all patients had mild microcytic hypochromic anemia and an increased reticulocyte count with a wide red cell distribution (RDW), but no longer required red cell transfusion. At 1 to 2 years of age, some patients still had mild microcytic hypochromic anemia and some had normocytic hypochromic anemia with Hb around 10 g/dL, increased reticulocyte count and wide RDW. Associated findings included hypothyroidism (2), congenital heart diseases (4), genitourinary abnormalities (3), gastrointestinal abnormalities (2), and developmental delay (1).

Summary: Pediatric patients with homozygous Hb Constant Spring developed severe anemia in utero and up to the age of 2 to 3 months postnatal, requiring blood transfusions. Subsequently, their anemia was mild with no evidence of hepatosplenomegaly. Their Hb level was above 9 g/dL with hypochromic microcytic blood pictures as well as wide RDW. Blood transfusions have not been necessary since then.

Departments of *Pediatrics

Obstetrics and Gynecology, Faculty of Medicine, Khon Kaen University

Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand

The authors declare no conflict of interest.

Reprints: Patcharee Komvilaisak, MD, Khon Kaen University, Muang, Khon Kaen 40000, Thailand (e-mail: patkomwi@gmail.com).

Received March 14, 2017

Accepted January 5, 2018

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