The Development of Haematological Changes in Homozygous Sickle Cell Disease: a Cohort Study from Birth to 6 Years

Abstract

A cohort study of sickle cell disease from birth has allowed observations on the disease without the symptomatic selection inherent in previous series. The development of haematological indices from birth to 6 years in male and female infants with homozygous sickle cell (SS) disease is presented and compared with values in age and sex matched controls with a normal haemoglobin (AA) genotype previously presented elsewhere. In SS disease total haemoglobin levels fell rapidly from birth to a plateau at 3-6 months before falling again to 15 months after which no age related change occurred. Mean cell haemoglobin concentration fell from birth to lowest values at 15-18 months before increasing to reach the level present at birth by the age of 5 years. Red cell counts fell rapidly after birth to a plateau at 2 months, increased slightly to 6 months and then fell steadily throughout the remaining period of the study. The men cell volume and mean cell haemoglobin also fell rapidly after birth reaching the lowest values by 6 months and then increased progressively. Female patients showed significantly higher MCV from 4 to 8 months and significantly higher haemoglobin levels from 15 months to 4 1/2 years. Compared to AA controls, SS patients manifested significantly lower levels of haemoglobin from 2 weeks, and red cell counts from 1 month, and significantly higher levels of MCHC from 4 months to 3 years, MCV from 8 months to 5 years, and serum iron levels from 1 to 4 years. Children with SS disease were partially protected from iron deficiency in early childhood, perhaps by increased intestinal absorption of iron, and the associated increase in intracellular haemoglobin concentration might be disadvantageous during this high risk period.

Increased Reticulocytosis during Infancy Is Associated with Increased Hospitalizations in Sickle Cell Anemia Patients during the First Three Years of Life

“…[22] Once the remaining fetal cells are cleared from the circulation, anemia develops. [23] The subsequent reduction in hematocrit leads to increased production of HbS-containing cells, and tissue hypoxia appears to remain as a central driver of continued increased reticulocyte production. A more robust reticulocyte response is predicted in those SCA infants who are less able to maintain HbF production, since the physiologic nadir occurs during the fetal-to-adult hemoglobin transition during human ontogeny.…”

Iron deficiency in Yemeni patients with sickle-cell disease

“…Although the medical literature tends to support the view that patients with SCD have iron overload [12,13], there are contrary reports that describe iron deficiency in a proportion of these patients [2][3][4]7,14]. The diagnosis of iron deficiency in patients with SCD is difficult because there is no highly specific test to define iron status in such patients [4,15], and as the reliability of the conventional laboratory tests used for the diagnosis of iron-deficiency anaemia may be modified by SCD as well as by other factors such as inflammation and age [4].…”

Nutrition and sickle cell disease

“…Endocrinologic studies fail to show a consistent relationship between growth retardation and abnormalities in growth hormone [20,29,35], somatomedin C [29,36] or thyroid hormone [ 13,291. It is perhaps of note that all deficits develop after 6 months [34], a finding that temporally coincides with the replacement of fetal hemoglobin with hemoglobin S [28,37,38]. By adulthood, however, Ashcroft and Serjeant have shown normal or even increased height in adult sickle cell patients from Jamaica [16,17,31,39].…”