Abstract | BACKGROUND: 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.
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Authors | Patcharee Komvilaisak, Arunee Jetsrisuparb, Goonnapa Fucharoen, Ratana Komwilaisak, Junya Jirapradittha, Pakaphan Kiatchoosakun |
Journal | Journal of pediatric hematology/oncology
(J Pediatr Hematol Oncol)
Vol. 40
Issue 5
Pg. 409-412
(07 2018)
ISSN: 1536-3678 [Electronic] United States |
PMID | 29668548
(Publication Type: Journal Article)
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Chemical References |
- Hemoglobins, Abnormal
- Hemoglobin Constant Spring
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Topics |
- Anemia
(genetics, pathology, therapy)
- Child, Preschool
- Erythrocyte Transfusion
- Female
- Hemoglobins, Abnormal
(genetics)
- Homozygote
- Humans
- Infant
- Infant, Low Birth Weight
- Jaundice, Neonatal
(genetics, pathology, therapy)
- Male
- Phototherapy
- Retrospective Studies
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