Pediatric sickle cell retinopathy: correlation with clinical factors.

BACKGROUND: Sickle cell disease (SCD) occurs in 1 of every 500 African American births and 1 of every 36,000 Hispanic American births. Of children with SCD, 16.7% to 96.3% develop sickle retinopathy (SR). This study was designed to determine whether certain factors are associated with SR and whether SR is correlated with a greater incidence of other SCD manifestations. METHODS: A retrospective analysis was performed of 258 children with SCD seen in the ophthalmology clinic at a large urban children's hospital. Of these, 54 children with SR were matched for age and sickle variant with 54 children with normal examinations. Data extracted included demographics, type of retinopathy, presence of glucose-6-phosphate dehydrogenase (G6PD) deficiency, and history of acute chest syndrome, transfusions, pulmonary hypertension, renal disease, cerebrovascular accident, aplastic crisis, splenic sequestration, priapism, osteonecrosis, gallstones, pneumonia, leg ulcers, vaso-occlusive pain crises, and death. RESULTS: Of the children with SR, 11 (20.3%) had active proliferative disease, 32 (56.1%) had hemoglobin SS, 18 (31.6%) had hemoglobin SC, and 4 (7.0%) had hemoglobin S-beta thalassemia. Several factors were correlated with retinopathy: pain crisis (odds ratio [OR], 5.00; p=0.011), male sex (OR, 4.20, p=0.004), and splenic sequestration (OR, 4.00; p=0.013). G6PD deficiency was more common in patients with retinopathy, although this was not statistically significant (OR, 4.20; p=0.054). No other factors, including frequency of pain crisis, were statistically significant. CONCLUSIONS: Patients with pain crisis and splenic sequestration should be considered for early ophthalmic evaluation. Those with G6PD deficiency may also deserve early screening. By identifying patients at high risk for SR, we can refine screening protocols to safeguard patients from vision loss.

Understanding sickle cell disorders.

More than 12,500 people in England have sickle cell disorders. This article explains how these disorders call be inherited and discusses the associated clinical problems. The author focuses on social, psychosocial and cultural aspects, and the implications for nursing practice are examined.

A case of hemoglobin SC disease with cold agglutinin-induced hemolysis.

Children with sickle cell disease commonly require red blood cell (RBC) transfusion. We report the first case of hemoglobin (Hb) SC disease with development of severe anemia induced by cold agglutinin hemolysis after Mycoplasma infection. Complete blood count (CBC) showed falsely decreased RBC count and hematocrit and falsely elevated MCV and MCHC. Peripheral blood smear showed RBC clumping at room temperature; this disappeared after warming to 37 degrees C. Anti C3b-C3d was present on red cells, and indirect antiglobulin test revealed a circulating cold agglutinin. Furthermore, anti-Mycoplasma pneumoniae IgM antibody was detected in serum. Careful evaluation of CBCs and peripheral blood smears is required in cases of worsening anemia among sickle cell patients and consideration should be given to cold hemagglutinin disease as an etiology.

Sickle hemoglobinopathies in Sicily.

The clinical and hematological features of 202 Sicilian subjects with sickle cell disease are reported, 41 being homozygous for beta s (beta s beta s), 64 with beta zero thal beta s (beta zero beta s), and 97 beta+ thal beta s (beta+ beta s). Analysis of the findings showed that the disease observed in Sicilians is of intermediate severity and falls between the severe form observed in patients of African origin and the milder one seen in subjects of Arabian origin.

Funduscopic alterations in SS and SC hemoglobinopathies. Study of a Brazilian population.

Fundus changes in sickle cell disease are well studied and documented according to their clinical and angiographic aspects. Sickle cell retinopathy was studied in a Brazilian population of 63 patients (41 with SS hemoglobinopathy, and 22 with SC hemoglobinopathy). All ophthalmoscopic changes observed in our patients were more frequent in the SC group with the exception of atrophic retinal tears, found only in the SS group. Proliferative retinopathy including its complications was seen in 54.54% of the eyes of the SC group, and in only 14.64% of the eyes of the SS group. Decreased vision is consequently greater in the SC group. Despite the great frequency of funduscopic changes in both groups, only 1 patient suffered irreversible visual loss due to retinal detachment operated on without success.

[Hemoglobin Boumerdès alpha 2(37) (C2) Pro----Arg beta 2: a new variant of the alpha chain associated with hemoglobin S in an Algerian family]. / Hémoglobine Boumerdès alpha 2(37) (C2) Pro----Arg beta 2: un nouveau variant de la chaîne alpha associé à l'hémoglobine S dans une famille algérienne.

We report the first case of Hb Boumerdes, an alpha chain variant alpha 2(37) (C2) Pro----Arg beta 2, in an Algerian family. The propositus was also homozygous for the sickle cell gene. The abnormal hybrid Hb alpha 2Boum. beta 2S had an electrophoretic mobility on cellulose acetate pH 8.7 electrophoresis between those of Hb S and Hb A2. Its expression was about 16%. The alpha 2Boum. beta 2A fraction has a mobility between those of Hb F and Hb S. The effects of this mutation on Hb oxygen affinity and deoxy Hb S polymer formation were not studied. The propositus' sickle cell phenotype was benign.

Ocular findings in hemoglobin SC disease in Jamaica

In order to structure a series without bias, the retinal and chorioretinal lesions were recorded in a series of 70 Jamaicans with hemoglobin SC disease who were consecutive patients at a sickle cell clinic during a one-month period. By avoiding selective inclusion of cases with ocular pathology, a direct comparison with 76 SS cases studied earlier was possible. An analysis of both series, together indicated that peripheral retinal whitening was associated with mild grades of peripheral retinal vessel disease in 84.3 percent and with severe grades in 47.4 percent, giving rise to the postulation that peripheral whitening reflects an anoxic change, possibly edema, whereas a reddish brown appearance characterizes retinal atrophy associated with more severe vessel disease. Proliferative sickle retinopathy occurred in 63 percent SC paients compared with 26 percent SS patients. The incidence of retinitis proliferans in SC patients was related to hemoglobin level and occurred in 73 percent of patients with hemoglobin levels above 12.5 percent compared to 15 percent of those with hemoglobin below this level. This suggests that an increased blood viscosity may contribute to the development of retinitis proliferans. (Summary)