Sickle Retinopathy in a Person with Hemoglobin S/New York Disease

Abstract

A patient who presented with sickle retinopathy and hemoglobin electrophoresis results compatible with sickle cell trait was found, on further investigation, to be a compound heterozygote with hemoglobin S and hemoglobin New York disease. This recently reported form of sickle cell disease was not previously known to cause retinopathy and surprisingly was observed in a non-Asian individual. The ophthalmological findings, the laboratory diagnosis, and possible pathophysiology of this disorder are discussed. Persons diagnosed with sickle cell trait who present with symptoms of sickle cell disease may benefit from specific screening for this variant.

Comparison of capillary electrophoresis and high performance liquid chromatography for detection and quantification of hemoglobin New York

“…Two patients had splenic infarction; one of them also developed the acute chest syndrome after splenectomy [4]. The patient described in the second article developed retinopathy [5].…”

“…To our knowledge, only three clinical cases of compound heterozygosity S/New York were published, and in all of them patients presented complications associated to sickling [4,5]. Two patients had splenic infarction; one of them also developed the acute chest syndrome after splenectomy [4].…”

“…In Guangxi region following Hb variants are common: for α globin chain, Hb Constant Spring (Hb CS) and Hb Westmead (Hb WS) [1]; for β-globin chain, Hb E [2] and Hb New York [3]. Although heterozygotes for Hb New York do not display any clinical symptoms, this Hb was reported to be involved in sickling disease, when combined to Hb S [4,5].…”

Detection of Hemoglobin New York [β113 (G15) Val→Glu, GTG>GAG] in a Thai Woman by Capillary Electrophoresis

“…The heterozygote of Hb New York is clinically and hematologically normal. However, the compound heterozygote of Hb New York and Hb S presented complication associated to sickling [4]. Even though Hb S is very rare in Thailand, the b-thalassemia and other b-globin variants such as Hb E, Hb Hope, and Hb Tak are highly frequent [5].…”

α-chain hemoglobin variants with electrophoretic mobility similar to that of hemoglobin S in newborn screening programs

“…For this reason it is important to use confirmatory tests (which are also frequently used in screening programs), such as the sickling test and the hemoglobin solubility test (based on the insolubility of deoxy-HbS in high molarity phosphate buffer) (5) . In the case of Hb S in association with other variants, whether Hb S-like or not, correct identification of the second variant is fundamental to distinguish between those variants that will lead to SCD, those that evolve without any symptoms and those that produce specific symptoms (7) . Molecular techniques, such as restriction enzyme analysis and globin gene sequencing, are the most commonly used techniques for known mutations and new or rare mutations, respectively (8,9) .…”