scholarly journals Initial assessment of the beneficial effect of partial splenectomy in hereditary spherocytosis

Blood ◽  
1993 ◽  
Vol 81 (8) ◽  
pp. 2014-2020 ◽  
Author(s):  
G Tchernia ◽  
F Gauthier ◽  
F Mielot ◽  
JP Dommergues ◽  
J Yvart ◽  
...  
Keyword(s):  
Life Span ◽  
Hereditary Spherocytosis ◽  
Reticulocyte Count ◽  
Clinical Manifestations ◽  
Partial Splenectomy ◽  
Initial Assessment ◽  
Phagocytic Function ◽  
Normal Range ◽  
Rbc Membrane ◽  
Technetium Uptake

Abstract Clinical manifestations of hereditary spherocytosis (HS), the most common red blood cell (RBC) membrane disorder, can be abrogated or markedly reduced by splenectomy. However, concerns regarding risks from overwhelming infections after splenectomy have restricted its use, especially in children. This study was designed to determine if partial splenectomy can decrease the hemolytic rate while maintaining phagocytic function of the spleen. Partial splenectomy was performed in 11 children (age 2 to 13) with HS. The effect on hemolytic rate was assessed by comparing the presurgical and postsurgical values for hemoglobin, reticulocyte number, and RBC life span. The residual splenic phagocytic function was assessed using technetium 99m scans and by enumerating the percentage of pitted RBCs in circulation. There were no complications from the surgical procedure in any of the 11 individuals. Following partial splenectomy, hemoglobin increased on the average by 3 g/dL, reticulocyte count decreased by 300 x 10(6)/L, and RBC life span was substantially prolonged. Normal technetium uptake was noted in the splenic remnant and the percentage of pitted RBCs was in the normal range. Partial splenectomy is effective in decreasing the hemolytic rate while maintaining residual splenic phagocytic function of the spleen in HS. We conclude that the use of this procedure as treatment for RBC membrane disorders warrants consideration, especially in infants under 5 years of age who need frequent transfusions.

scholarly journals Initial assessment of the beneficial effect of partial splenectomy in hereditary spherocytosis

Blood ◽  
1993 ◽  
Vol 81 (8) ◽  
pp. 2014-2020 ◽  
Author(s):  
G Tchernia ◽  
F Gauthier ◽  
F Mielot ◽  
JP Dommergues ◽  
J Yvart ◽  
...  
Keyword(s):  
Life Span ◽  
Hereditary Spherocytosis ◽  
Reticulocyte Count ◽  
Clinical Manifestations ◽  
Partial Splenectomy ◽  
Initial Assessment ◽  
Phagocytic Function ◽  
Normal Range ◽  
Rbc Membrane ◽  
Technetium Uptake

Clinical manifestations of hereditary spherocytosis (HS), the most common red blood cell (RBC) membrane disorder, can be abrogated or markedly reduced by splenectomy. However, concerns regarding risks from overwhelming infections after splenectomy have restricted its use, especially in children. This study was designed to determine if partial splenectomy can decrease the hemolytic rate while maintaining phagocytic function of the spleen. Partial splenectomy was performed in 11 children (age 2 to 13) with HS. The effect on hemolytic rate was assessed by comparing the presurgical and postsurgical values for hemoglobin, reticulocyte number, and RBC life span. The residual splenic phagocytic function was assessed using technetium 99m scans and by enumerating the percentage of pitted RBCs in circulation. There were no complications from the surgical procedure in any of the 11 individuals. Following partial splenectomy, hemoglobin increased on the average by 3 g/dL, reticulocyte count decreased by 300 x 10(6)/L, and RBC life span was substantially prolonged. Normal technetium uptake was noted in the splenic remnant and the percentage of pitted RBCs was in the normal range. Partial splenectomy is effective in decreasing the hemolytic rate while maintaining residual splenic phagocytic function of the spleen in HS. We conclude that the use of this procedure as treatment for RBC membrane disorders warrants consideration, especially in infants under 5 years of age who need frequent transfusions.

Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis

Blood ◽  
2001 ◽  
Vol 97 (2) ◽  
pp. 399-403 ◽  
Author(s):  
Brigitte Bader-Meunier ◽  
Frédéric Gauthier ◽  
Frédérique Archambaud ◽  
Thérèse Cynober ◽  
Francoise Miélot ◽  
...  
Keyword(s):  
Beneficial Effect ◽  
Hereditary Spherocytosis ◽  
Clinical Manifestations ◽  
Vascular Complications ◽  
Gallstone Formation ◽  
Small Population ◽  
Treatment Modalities ◽  
Small Subset ◽  
Phagocytic Function ◽  
Subtotal Splenectomy

Abstract Clinical manifestations of hereditary spherocytosis (HS) can be abrogated by splenectomy. However, concerns exist regarding exposure of patients to a lifelong risk for overwhelming infections and, to a lesser extent, to vascular complications after total splenectomy. In the search for alternative treatment modalities, we assessed, in a previous pilot study, the potential usefulness of subtotal splenectomy in a small population of patients. During a mean follow-up period of 3.5 years, subtotal splenectomy was shown to be effective in decreasing the hemolytic rate, while maintaining the phagocytic function of the spleen. In the current study, we evaluated the clinical and biologic features of 40 patients with HS who underwent subtotal splenectomy and were monitored for periods ranging from 1 to 14 years. The beneficial effect of subtotal splenectomy included a sustained decrease in hemolytic rate and a continued maintenance of phagocytic function of the splenic remnant. However, mild-to-moderate hemolysis was persistent and accounted for secondary gallstone formation and aplastic crisis in a small subset of patients. Surprisingly, regrowth of the remnant spleen did not seem to have a major impact on the beneficial outcomes of these individuals. Our results suggest that subtotal splenectomy appears to be a reasonable treatment option for management of patients with HS, especially young children.

scholarly journals Red blood cell associated IgG in normal and pathologic states

Blood ◽  
1980 ◽  
Vol 55 (1) ◽  
pp. 48-54 ◽  
Author(s):  
IO Szymanski ◽  
PR Odgren ◽  
NL Fortier ◽  
LM Snyder
Keyword(s):  
Blood Cell ◽  
Hemolytic Anemia ◽  
Blood Cells ◽  
Hereditary Spherocytosis ◽  
Reticulocyte Count ◽  
Igg Antibody ◽  
Rbc Membrane ◽  
Antiglobulin Test ◽  
Membrane Bound

We studied the anti-IgG-induced agglutination of both normal and abnormal red blood cells (RBC) using a sensitive, automated antiglobulin test. Normal RBC agglutinated strongly with anti-IgG antibody, indicating that IgG was present on the erythrocyte membrane. Young RBC, recovered by centrifugation from a normal RBC population, agglutinated with anti-IgG less than the old cells, suggesting that immunoglobulin G accumulated gradually on the RBC membrane in vivo. The degree of anti-IgG-induced RBC agglutination correlated negatively with the reticulocyte count and positively with the concentration of plasma IgG. RBC from patients with hypogammaglobulinemia appeared to have a low subnormal quantity of membrane-bound IgG, whereas the reverse was the case in hypergammaglobulinemia. During hemolytic episodes, RBC of patients with hereditary spherocytosis agglutinated poorly with anti- IgG, apparently due to predominance of young RBC. RBC of patients with nonspherocytic. Coombs-negative, nonimmune hemolytic anemia usually also agglutinated poorly with anti-IgG. However, in some cases of active hemolytic anemia, decreased agglutination with anti-IgG was not observed, suggesting that these young RBC had increased amounts of membrane-bound IgG.

scholarly journals Red blood cell associated IgG in normal and pathologic states

Blood ◽  
1980 ◽  
Vol 55 (1) ◽  
pp. 48-54 ◽  
Author(s):  
IO Szymanski ◽  
PR Odgren ◽  
NL Fortier ◽  
LM Snyder
Keyword(s):  
Blood Cell ◽  
Hemolytic Anemia ◽  
Blood Cells ◽  
Hereditary Spherocytosis ◽  
Reticulocyte Count ◽  
Igg Antibody ◽  
Rbc Membrane ◽  
Antiglobulin Test ◽  
Membrane Bound

Abstract We studied the anti-IgG-induced agglutination of both normal and abnormal red blood cells (RBC) using a sensitive, automated antiglobulin test. Normal RBC agglutinated strongly with anti-IgG antibody, indicating that IgG was present on the erythrocyte membrane. Young RBC, recovered by centrifugation from a normal RBC population, agglutinated with anti-IgG less than the old cells, suggesting that immunoglobulin G accumulated gradually on the RBC membrane in vivo. The degree of anti-IgG-induced RBC agglutination correlated negatively with the reticulocyte count and positively with the concentration of plasma IgG. RBC from patients with hypogammaglobulinemia appeared to have a low subnormal quantity of membrane-bound IgG, whereas the reverse was the case in hypergammaglobulinemia. During hemolytic episodes, RBC of patients with hereditary spherocytosis agglutinated poorly with anti- IgG, apparently due to predominance of young RBC. RBC of patients with nonspherocytic. Coombs-negative, nonimmune hemolytic anemia usually also agglutinated poorly with anti-IgG. However, in some cases of active hemolytic anemia, decreased agglutination with anti-IgG was not observed, suggesting that these young RBC had increased amounts of membrane-bound IgG.

Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature

2018 ◽  
Vol 140 (2) ◽  
pp. 77-86 ◽  
Author(s):  
Yeping Luo ◽  
Zhuoying Li ◽  
Lihua Huang ◽  
Jing Tian ◽  
Menglong Xiong ◽  
...  
Keyword(s):  
Hereditary Spherocytosis ◽  
Novel Mutation ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Mutation Spectrum ◽  
Chinese Family ◽  
Review Of The Literature ◽  
Newborn Period ◽  
Gene Splicing ◽  
Generation Sequencing

Background/Aims: Hereditary spherocytosis (HS) is a common pediatric hemolytic anemia caused by congenital red blood cell defects. HS due to ankyrin 1 (ANK1) mutations is the most common type. We explored an ANK1 mutation from an HS patient and reviewed the literature. Methods: We detected the mutation in a Chinese family in which 2 members were diagnosed with HS by next-generation sequencing. The proband was diagnosed with HS in the newborn period, based on clinical manifestations, laboratory data, and family history. The mutation spectrum of the ANK1 gene was summarized based on 85 patients diagnosed with HS carrying ANK1 mutations, and the ANK1 mutation spectrum was summarized and analyzed. Results: We identified a novel mutation affecting ANK1 gene splicing (a splicing mutation) in both the patient and her mother, which is a substitution of T>G 2 nt after exon 25 in intron 26. The study expands our knowledge of the ANK1 gene mutation spectrum, providing a molecular basis for HS. Conclusion: A novel ANK1 mutation (NM_000037.3, c.2960+2T>G, intron 26) that is potentially associated with HS was identified. To date, 80 ANK1 mutations have been reported to be associated with HS in humans.

scholarly journals Delayed diagnosis of long QT syndrome in a patient with seizures

2019 ◽  
Vol 26 (3) ◽  
pp. 190-193
Author(s):  
Seung Yong Shin ◽  
Jun Young Hong ◽  
Dong Hoon Lee
Keyword(s):  
Emergency Department ◽  
Long Qt Syndrome ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Initial Assessment ◽  
Long Qt ◽  
Prolonged Qt Interval ◽  
Qt Syndrome ◽  
Seizure Episode ◽  
Diagnostic Work

Introduction: Long QT syndrome accompanied by a seizure episode is often misdiagnosed as primary epilepsy. Although patients with Long QT syndrome who are misdiagnosed and improperly managed are likely to result in fatality, their first clinical manifestations are seizure episodes in many cases. Case presentation: A 17-year-old boy visited the emergency department with poorly controlled seizure during epilepsy treatment was found to have been misdiagnosed with epilepsy when he was 7 years old. His electrocardiography showed a prolonged QT interval. After careful re-evaluation, he was finally diagnosed with Long QT syndrome and recovered without any seizure episodes in the absence of anti-epileptic agents. Discussion and conclusion: Careful initial assessment including repetitive electrocardiography, when abnormal, is required for those who visit the emergency department with a seizure or who show no definite abnormalities in diagnostic work up process.

scholarly journals Glycosylated haemoglobin: a false sense of security

2018 ◽  
Vol 11 (1) ◽  
pp. e227668
Author(s):  
Emily Finan ◽  
Joe Joseph
Keyword(s):  
Unusual Case ◽  
Hereditary Spherocytosis ◽  
Reticulocyte Count ◽  
Blood Film ◽  
Glycosylated Haemoglobin ◽  
Sense Of Security ◽  
Peripheral Blood Film ◽  
False Sense ◽  
History Of

We report the unusual case of a patient found to have a low glycosylated haemoglobin (HbA1c) despite having recently been diagnosed with diabetes mellitus type 2. The patient, who was not anaemic, with no symptoms or family history of haematological conditions, was subsequently found to have an elevated reticulocyte count, inferring increased red cell turnover as the culprit for the discordant HbA1c result. A diagnosis of hereditary spherocytosis was made based on characteristic peripheral blood film appearances and confirmed by eosin-5-maleimide binding test. Exposure of an undiagnosed haemolytic anaemia by virtue of a low HbA1c is uncommon. However, conditions that distort HbA1c measurements are not infrequent. This case should serve to remind clinicians of the limitations of HbA1c in specified situations, and to remain vigilant when interpreting results.

scholarly journals Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis

Blood ◽  
1993 ◽  
Vol 82 (10) ◽  
pp. 2953-2960 ◽  
Author(s):  
P Savvides ◽  
O Shalev ◽  
KM John ◽  
SE Lux
Keyword(s):  
Blood Cell ◽  
Red Blood Cell ◽  
Autosomal Dominant ◽  
Hereditary Spherocytosis ◽  
Band 3 ◽  
Normal Range ◽  
Dominant Form ◽  
Autosomal Dominant Form ◽  
The Common ◽  
Ankyrin Deficiency

Abstract The common autosomal dominant form of hereditary spherocytosis (HS) has been genetically linked to defects of the erythroid ankyrin gene in a few families; however, the frequency of ankyrin deficiency and its relationship to red blood cell (RBC) spectrin content are unknown. To test these questions, we measured RBC spectrin and ankyrin by radioimmunoassay in 39 patients from 20 families with dominant HS. Normal RBCs contained 242,000 +/- 20,500 spectrin heterodimers and 124,500 +/- 11,000 ankyrins per cell. In dominant HS, RBC spectrin and ankyrin ranged from about 40% to 100% of normal and were continuously distributed. Measurements in the same patient on different occasions were reproducible (+/- 5% to 10%) and RBCs from affected members of a kindred contained similar amounts of spectrin and ankyrin (+/- 3% to 4%). Spectrin and ankyrin levels were almost always less than the assay controls, but were less than the normal range in only 75% and 80% of kindreds, respectively. Remarkably, the degree of RBC spectrin and ankyrin deficiency was very similar in 19 of 20 HS kindreds. One otherwise typical family differed, with marked ankyrin deficiency (45% of control) and a relatively mild spectrin deficit (81%). We conclude that most patients with dominant HS have combined ankyrin and spectrin deficiency and that the two proteins are usually about equally deficient, suggesting that defects in ankyrin expression, ankyrin stability, or ankyrin band 3 (AE1) interactions may be common in dominant HS.

Severe Hypercalcemia due to Primary Hyperparathyroidism with MEN 2A

2010 ◽  
Vol 2 (3) ◽  
pp. 131-133
Author(s):  
Geoffrey B Thompson ◽  
Benzon M Dy ◽  
Bianca Vazquez ◽  
Peter J Tebben ◽  
Seema Kumar
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Surgical Management ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Mineral Density ◽  
Normal Range ◽  
Rare Presentation ◽  
Severe Hypercalcemia ◽  
Men 2A

ABSTRACT Introduction Severe hypercalcemia due to primary hyperparathyroidism (PHPT) is rare in the setting of MEN 2A. Materials and methods Two patients with MEN 2A and severe hypercalcemia were identified recently. Their clinical presentation, evaluation, surgical management and outcomes are reviewed. Results Two patients with MEN 2A were identified with severe hypercalcemia secondary to a parathyroid adenoma. Calcium levels were elevated to 12.7 mg/dL and 15.1 mg/dL, respectively (normal range = 8.9-10.1 mg/dL). In each case, a single parathyroid adenoma was identified and surgically excised with normalization of parathyroid and calcium levels postoperatively. Clinical manifestations at the time of diagnosis included constipation, polyuria, hypercalciuria, and decreased bone mineral density. Conclusion Severe elevation of serum calcium is a rare presentation of PHPT in MEN2A. The differential diagnosis should include parathyroid adenoma, hyperplasia and parathyroid carcinoma. Early surgical management is essential in the treatment of hyperparathyroidism with severe hypercalcemia to prevent further complications.

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