Pediatr Blood Cancer 2014;61:1895–1896
LETTER TO THE EDITOR A Multicenter Study on the Lebanese Experience With Hereditary Spherocytosis
Hereditary spherocytosis (HS) is a phenotypically diverse inherited red blood cell membrane disorder characterized by the presence of spherocytes on a blood smear [1]. Assessment of HS management in Lebanon in comparison to international studies and guidelines has never been attempted before. Herein, we report the demographic, clinical, hematological, and therapeutic features of 36 children with HS followed in four pediatric centers in Lebanon. Fifteen males (41.7%) and 21 females (58.3%), median age at diagnosis 40 months (range: 18.5–84.7) and median follow-up 3.76 years (0.75–8.59) were included. About 50% had family history of HS and 30.6% had HS in one parent. There was no significant correlation between age at diagnosis and family history. Nine of 36 patients had neonatal jaundice requiring phototherapy and/or transfusions. The predominant clinical manifestations at diagnosis were pallor (86.1%), splenomegaly (69.4%), and anemia (66.7%) (Fig. 1). The mean spleen size at diagnosis was 5.28 2.94 cm below left costal margin. Twelve of 36 had an infection preceding diagnosis. Two-thirds of patients with gallstones underwent cholecystectomy. Mean hemoglobin, MCV and MCHC at time of diagnosis were 8.7 2.2 g/dL, 75.3 11.1 fL/red cell, and 35.3 2.0 g/dL, respectively. Blood smears in 24/24 showed spherocytosis. Mean reticulocyte count, LDH, and ferritin levels were 6.8% 6.7, 359.1 81.3 mg/L, and 222.0 255.4 mg/dL, respectively. Osmotic fragility test performed in 31/36 (86.1%) patients was abnormal in 83%. HbF level did not correlate with hemoglobin level or transfusion need. Five of 23 had G6PD deficiency, with no correlation between G6PD status and transfusions or splenectomy. Twenty-seven of 36 patients required transfusions mostly intermittent. Two patients needed iron chelation. Folic acid supplementation was provided to 41.7% of patients. Ten patients underwent splenectomy with sustained improvement. Post-splenectomy thrombocytosis and coagulopathy developed in 7/10 and 0/10 patients. Two of 36 patients had a complicated HS course: one had severe postsplenectomy infection while another died from a
hyperhemolytic episode. Thirty-four of 36 patients (94.4%) had an uncomplicated HS course and are alive and doing well. There was no correlation between splenectomy and age of diagnosis, MCHC level, or blood type nor between transfusion need and age at diagnosis, gender, or blood type. There was a positive correlation between transfusion need and splenectomy (P ¼ 0.032) as well as folic acid supplementation (P ¼ 0.039) and between splenectomy and number of blood transfusions received (P ¼ 0.022) and positive HS family history (P ¼ 0.025). Prior to this study, no data about HS in the Lebanese population existed. A positive family history is often present in 75% of HS patients [2]. The lower positive family history in this Lebanese group may be due to under reporting due to fear of social stigmatism. The classical clinical features of HS are those of hemolysis and were evident in our patients [1]. Based on our findings, osmotic fragility test is still a common practice in Lebanon. The proportion of splenectomized patients in this study was quite similar to that reported by others with minimal complications [3]. There was a significant underutilization of folic acid in HS management. In conclusion, this study showed that Lebanese HS patients shared similar features and treatment modalities as previously reported populations. Prospective studies are needed to better assess the utility of newer diagnostic tests and splenectomy associated long-term complications.
ACKNOWLEDGEMENT We would like to acknowledge Dr. Hasan Khalifeh, Zahraa Medical Center, for his help with patient recruitment and follow-up. Adlette Inati, MD* School of Medicine Lebanese American University Byblos, Lebanon Division of Pediatric Hematology Oncology Rafic Hariri University Hospital Beirut, Lebanon Peter Noun, MD St. Georges Hospital Beirut, Lebanon Nabil Kabbara, MD Nini Hospital Tripoli, Lebanon
Fig. 1. Distribution of HS patients according to presenting signs and symptoms (%). C
2014 Wiley Periodicals, Inc. DOI 10.1002/pbc.24992 Published online 4 March 2014 in Wiley Online Library (wileyonlinelibrary.com).
Correspondence to: Adlette Inati, School of Medicine, Lebanese American University, Byblos, Lebanon; Division of Pediatric Hematology Oncology, Rafic Hariri University Hospital, Beirut, Lebanon. Email: [email protected]
Received 1 January 2014; Accepted 27 January 2014
1896
Inati et al. Cynthia Salloum, MD Michel Kmeid, MD Maroun Sadek, MD School of Medicine Lebanese University Beirut, Lebanon
Hussein A. Abbas, PhD American University of Beirut School of Medicine Beirut, Lebanon
Pediatr Blood Cancer DOI 10.1002/pbc
Mario Kahale, MD Division of Pediatric Hematology Oncology Rafic Hariri University Hospital Beirut, Lebanon
REFERENCES 1. Bolton-Maggs PH. Hereditary spherocytosis; new guidelines. Arch Dis Child 2004;89:809–812. 2. Bolton-Maggs PH, et al. Guidelines for the diagnosis and management of hereditary spherocytosis—2011 update. Br J Haematol 2012;156:37–49. 3. Oliveira MC, et al. Clinical course of 63 children with hereditary spherocytosis: A retrospective study. Rev Bras Hematol Hemoter 2012;34:9–13.
LETTER TO THE EDITOR A Multicenter Study on the Lebanese Experience With Hereditary Spherocytosis
Hereditary spherocytosis (HS) is a phenotypically diverse inherited red blood cell membrane disorder characterized by the presence of spherocytes on a blood smear [1]. Assessment of HS management in Lebanon in comparison to international studies and guidelines has never been attempted before. Herein, we report the demographic, clinical, hematological, and therapeutic features of 36 children with HS followed in four pediatric centers in Lebanon. Fifteen males (41.7%) and 21 females (58.3%), median age at diagnosis 40 months (range: 18.5–84.7) and median follow-up 3.76 years (0.75–8.59) were included. About 50% had family history of HS and 30.6% had HS in one parent. There was no significant correlation between age at diagnosis and family history. Nine of 36 patients had neonatal jaundice requiring phototherapy and/or transfusions. The predominant clinical manifestations at diagnosis were pallor (86.1%), splenomegaly (69.4%), and anemia (66.7%) (Fig. 1). The mean spleen size at diagnosis was 5.28 2.94 cm below left costal margin. Twelve of 36 had an infection preceding diagnosis. Two-thirds of patients with gallstones underwent cholecystectomy. Mean hemoglobin, MCV and MCHC at time of diagnosis were 8.7 2.2 g/dL, 75.3 11.1 fL/red cell, and 35.3 2.0 g/dL, respectively. Blood smears in 24/24 showed spherocytosis. Mean reticulocyte count, LDH, and ferritin levels were 6.8% 6.7, 359.1 81.3 mg/L, and 222.0 255.4 mg/dL, respectively. Osmotic fragility test performed in 31/36 (86.1%) patients was abnormal in 83%. HbF level did not correlate with hemoglobin level or transfusion need. Five of 23 had G6PD deficiency, with no correlation between G6PD status and transfusions or splenectomy. Twenty-seven of 36 patients required transfusions mostly intermittent. Two patients needed iron chelation. Folic acid supplementation was provided to 41.7% of patients. Ten patients underwent splenectomy with sustained improvement. Post-splenectomy thrombocytosis and coagulopathy developed in 7/10 and 0/10 patients. Two of 36 patients had a complicated HS course: one had severe postsplenectomy infection while another died from a
hyperhemolytic episode. Thirty-four of 36 patients (94.4%) had an uncomplicated HS course and are alive and doing well. There was no correlation between splenectomy and age of diagnosis, MCHC level, or blood type nor between transfusion need and age at diagnosis, gender, or blood type. There was a positive correlation between transfusion need and splenectomy (P ¼ 0.032) as well as folic acid supplementation (P ¼ 0.039) and between splenectomy and number of blood transfusions received (P ¼ 0.022) and positive HS family history (P ¼ 0.025). Prior to this study, no data about HS in the Lebanese population existed. A positive family history is often present in 75% of HS patients [2]. The lower positive family history in this Lebanese group may be due to under reporting due to fear of social stigmatism. The classical clinical features of HS are those of hemolysis and were evident in our patients [1]. Based on our findings, osmotic fragility test is still a common practice in Lebanon. The proportion of splenectomized patients in this study was quite similar to that reported by others with minimal complications [3]. There was a significant underutilization of folic acid in HS management. In conclusion, this study showed that Lebanese HS patients shared similar features and treatment modalities as previously reported populations. Prospective studies are needed to better assess the utility of newer diagnostic tests and splenectomy associated long-term complications.
ACKNOWLEDGEMENT We would like to acknowledge Dr. Hasan Khalifeh, Zahraa Medical Center, for his help with patient recruitment and follow-up. Adlette Inati, MD* School of Medicine Lebanese American University Byblos, Lebanon Division of Pediatric Hematology Oncology Rafic Hariri University Hospital Beirut, Lebanon Peter Noun, MD St. Georges Hospital Beirut, Lebanon Nabil Kabbara, MD Nini Hospital Tripoli, Lebanon
Fig. 1. Distribution of HS patients according to presenting signs and symptoms (%). C
2014 Wiley Periodicals, Inc. DOI 10.1002/pbc.24992 Published online 4 March 2014 in Wiley Online Library (wileyonlinelibrary.com).
Correspondence to: Adlette Inati, School of Medicine, Lebanese American University, Byblos, Lebanon; Division of Pediatric Hematology Oncology, Rafic Hariri University Hospital, Beirut, Lebanon. Email: [email protected]
Received 1 January 2014; Accepted 27 January 2014
1896
Inati et al. Cynthia Salloum, MD Michel Kmeid, MD Maroun Sadek, MD School of Medicine Lebanese University Beirut, Lebanon
Hussein A. Abbas, PhD American University of Beirut School of Medicine Beirut, Lebanon
Pediatr Blood Cancer DOI 10.1002/pbc
Mario Kahale, MD Division of Pediatric Hematology Oncology Rafic Hariri University Hospital Beirut, Lebanon
REFERENCES 1. Bolton-Maggs PH. Hereditary spherocytosis; new guidelines. Arch Dis Child 2004;89:809–812. 2. Bolton-Maggs PH, et al. Guidelines for the diagnosis and management of hereditary spherocytosis—2011 update. Br J Haematol 2012;156:37–49. 3. Oliveira MC, et al. Clinical course of 63 children with hereditary spherocytosis: A retrospective study. Rev Bras Hematol Hemoter 2012;34:9–13.
