Clinical Characteristics and Treatment Outcome of Hereditary Spherocytosis: A Single Center’s Experience

Objectives: The objective of the study is to present the demographic characteristics, clinical and laboratory features and outcome of our patients with hereditary spherocytosis (HS).
Methods: Demographic, clinical, and laboratory data; complications; and splenectomy results were analyzed retrospectively. The severity of the disease was scaled according to Eber’s criteria.
Results: Sixty-nine patients (42 boys, 27 girls, median age: 3 years) were eligible. Sixty-eight percent of the patients had a history of neonatal jaundice. The complaints at admission were jaundice (71%), fatigue (27.5%), fainting (4.3%), and pallor (4.3%). The median follow-up duration was 8.5 years. According to Eber’s criteria, three (4.3%), 57 (82.6%), and nine (13.1%) patients had mild, moderate, and severe diseases, respectively. Thirty-six patients (52.1%) had a splenectomy. Following splenectomy, we observed a significant rise in hemoglobin levels and a decline in indirect bilirubin levels. Post-operative thrombocytosis was common, with a tendency to fall and stabilize after 1 month. There were no thromboembolic complications.
Conclusion: In spite of the high rate of consanguinity, familial history of HS, and neonatal jaundice in our study group, the majority of the HS patients were identified relatively late, about 3 years. This finding shows that HS might be insufficiently acknowledged by primary care. Splenectomy, in selected cases, may reduce the need for transfusions. Post-splenectomy transient thrombocytosis is common and has a benign course.

Herediter Sferositoz Tanýlý Hastalarýmýzýn Klinik Özellikleri ve Tedavi Deðerlendimeleri: Tek Merkez Deneyimlerimiz

Amaç: Herediter sferositoz tanýlý hastalarýmýzýn demografik özelliklerini, klinik ve laboratuvar bulgularýný ve sonuçlarýný sunmak.
Yöntemler: Demografik özellikler, hastalarýn klinik ve laboratuvar verileri, hastalýða baðlý komplikasyonlar ve tedavide yapýlan splenektomi sonrasý sonuçlar retrospektif olarak incelendi. Hastalýðýn þiddeti Eber kriterlerine göre derecelendirildi.
Bulgular: Altmýþ dokuz hasta (42 erkek, 27 kýz, medyan yaþ: 3) çalýþmaya alýndý. Hastalarýn %68'inde yenidoðan sarýlýðý öyküsü vardý. Baþvuru yakýnmalarý sarýlýk (%71), halsizlik (%27,5), bayýlma (%4,3) ve solgunluk (%4,3) idi.
Medyan takip süresi 8,5 yýldýr. Eber kriterlerine göre 3 (%4,3), 57 (%82,6) ve 9 (%13,1) hastada sýrasýyla hafif, orta ve ciddi hastalýk vardý. Otuz altý hastaya (%52,1) splenektomi yapýldý. Splenektomiyi takiben hemoglobin seviyelerinde belirgin bir artýþ ve indirekt bilirubin seviyelerinde bir düþüþ gözlemledik. Postoperatif trombositoz yaygýn olarak izlendi, zaman ilerledikçe düþme eðilimindeydi ve bir ay sonra stabilize oldu. Tromboembolik komplikasyon görülmedi.
Sonuç: Çalýþma grubumuzdaki yüksek akraba evliliði oranýna raðmen, ailede HS öyküsü ve yenidoðan sarýlýðý, HS hastalarýnýn büyük çoðunluðuna göre görece geç, yaklaþýk üç yýl içinde saptanmaktadýr. Bu bulgu, HS'nin birinci basamakta yeterince tanýnmadýðýný göstermektedir. Seçilmiþ vakalarda splenektomi transfüzyon ihtiyacýný azaltabilir. Splenektomi sonrasý geçici trombositoz sýk görülür ve iyi huylu bir seyir gösterir. (SETB-2023-04-058)