A Case of Hereditary Spherocytosis Coexisting with Gilbert's Syndrome / 대한소화기학회지

We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. Genotyping of the conjugation enzyme uridine diphosphate-glucuronosyltransferase was used to confirm Gilbert's syndrome. Because of the high prevalence rates and similar symptoms of these 2 diseases, hereditary spherocytosis can be masked in patients with Gilbert's syndrome. In review of a case and other article, the possibility of the coexistence of these 2 diseases should be considered, especially in patients with unconjugated hyperbilirubinemia who also have splenomegaly and gallstones.

Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II

Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in patients with co-inheritance of GS and HS. We experienced an interesting case of HS showing persistent jaundice after splenectomy, and upon further evaluation, the 25-year-old female patient was found to have HS combined with UGT1A1 deficiency. Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygote with p.[G71R; Y486D] + [Y486D] mutations, which suggests Crigler-Najjar syndrome type II rather than GS. Careful evaluation of inappropriately elevated bilirubin level compared with the degree of hemolysis is important, reflecting the therapeutic implication of splenectomy and cholecystectomy.

A case of concomitant Gilbert's syndrome and hereditary spherocytosis / 대한간학회지

We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert's syndrome (GS). Since it is difficult to diagnose HS in the absence of signs of anemia, we evaluated both the genetic mutation in the UGT1A1 gene and abnormalities in the erythrocyte membrane protein; the former was heterozygous for a UGT1A1 allele with three mutations and the latter was partially deficient in ankyrin expression. This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene.

Flow-Assisted Differential Diagnosis of Hemolytic Anemia with Spherocytosis: A Case Report / 대한진단검사의학회지

In patients with hemolytic anemia associated with spherocytosis, differential diagnosis has to be made whether the hemolysis is immune-mediated or of non-immune origin. We report a case of hereditary spherocytosis in a 12-yr-old male child, in whom flow-assisted diagnosis was made. In this case, diagnosis was not determined because routine laboratory workups for hereditary spherocytosis yielded discrepant RESULTS: positive osmotic fragility test, positive direct antiglobulin test, and normal result in the red cell membrane protein sodium dodecyl succinimide polyacrylamide gel electrophoresis. However, all flow cytometry-based tests, such as osmotic fragility, direct antiglobulin, and eosin 5-maleimide binding test, yielded results compatible with hereditary spherocytosis. Additionally, in family study, the results of eosin 5-maleimide binding test suggested his disease being hereditary. In cases with diagnostic difficulties, flow cytometry may be used as an alternative tool, which can provide additional information in the differential diagnosis of hemolytic anemia with spherocytosis.

Posibilidades actuales de la cirugía laparoscópica: colecistectomia y esplenectomía simultáneas / Reaching of laparoscopic surgery: cholocystectomy and splenectomy in same operation

Se hace una breve reseña sobre los alcances de la cirugía laparoscópica y se comenta la observación de una paciente portadora de una esferocitosis a la cual se le practicó una colecistectomía y esplenectomía simultáneas con ese procedimiento y que presentó una seria complicación postoperatoria por la que debió ser reoperada pero que finalmente evolucionó bien

Aplastic crisis due to human parvovirus B19 infection in hereditary hemolytic anaemia

Specific anti-B19 IgM was demonstrated in sera from three children showing transient aplastic crisis. A two years-old boy living in Rio de Janeiro suffering from sickle-cell anaemia showed the crisis during August, 1990. Two siblings living in Santa Maria, RS, developed aplastic crisis during May, 1991, when they were also diagnosed for hereditary spherocytosis. For a third child from this same family, who first developed aplastic crisis no IgM anti-B19 was detected in her sera

Recidiva em anemia esferocitica pos-esplenectomia consequente a presenca de bacos acessorios / Recurrence of spherocytic anemia postsplenectomy due to accessory spleens

Tres anos apos esplenectomia total indicada para tratamento de uma paciente portadora de anemia esferocitica se instalou quadro compativel com recidiva intensa de anemia. A investigacao clinica revelou presenca de dois bacos acessorios com 3,5 e 4 cm de diametro localizados ao ultra-som e ao mapeamento com tecnecio. Com estes achados indicou-se laparotomia que confirmou presenca dos bacos acessorios e a remocao destes normalizou quadro hematologico. O desenvolvimento esplenico, a partir da quinta semana de vida intra-uterina ao nivel do mesogastrio dorsal, com a formacao do baco embrionario multilobulado justifica a possibilidade da presenca de bacos acessorios, se nao ocorrer processo de coalescencia total dos lobulos esplenicos primitivos. Estes fatos alertam e orientam a conduta intra-operatoria que o cirurgiao deve buscar quando da realizacao de esplenectomia para o tratamento da doenca hemolitica, se recidivas decorrentes do funcionamento de bacos acessorios queiram ser evitadas.

Esferocitose com lesöes cutâneas / Spherocytosis with cutaneous lesions

Mulher com extensas lesöes cutâneas do tipo ulceroso com 10 anos de evoluçäo, alternando-se pioras e melhoras às vezes espontâneas, às vezes como resposta parcial e temporária à medicaçäo. No 10§ ano de evoluçäo chegou-se ao diagnóstico de esferocitose, procedendo-se à esplenectomia que se seguiu de melhora transitória das ulceraçöes cutâneas e do hemograma. A doente voltou a piorar e o quadro clínico prosseguiu seu curso durante mais de dois anos, findos os quais sobreveio a morte. Descreve-se pormenorizadamente a observaçäo clínica e revê-se a literatura, sem que se tenha podido explicar a patogenia das lesöes cutâneas