This month Swee Lay Thein, MD, discusses the pros and cons of splenectomy for a patient with hemoglobin H disease.
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For many years I have been caring for a now 35-year-old woman with hemoglobin (Hb) H disease. Her long-term numbers are average (Hb about 7.5 g/dL, reticulocytes about 7%, bilirubin about 2.5 mg/dl). She does not need transfusions, but accumulates iron and needs long-term deferasirox to prevent her ferritin from rising above 1,000 μg/L (it was 1,700 in the past). Would a splenectomy be a good option to improve her Hb, reduce iron overload, and improve quality of life?
Hereditary hemolytic anemias encompass a group of anemias with causes that affect integrity of the red cell membrane, involve red blood cell enzymes and hemoglobin (hemoglobin variants and thalassemias), and can include congenital dyserythropoietic anemias. A typical feature of these anemias is splenomegaly that can range from being just palpable to massive, causing immense abdominal discomfort with the possibility of splenic rupture. Due to concerns regarding short- and long-term complications, such as infections and thromboses, we tend not to recommend splenectomy for hereditary hemolysis. Apart for hereditary spherocytosis, the efficacy of splenectomy for the other anemias is not clear.
HbH disease is a clinically distinct form of the so-called “non-transfusion-dependent thalassemias” (NTDTs), a term used to label patients with hemoglobinopathies who do not require regular transfusion for survival. HbH disease is the most severe non-fatal form of α-thalassemia, caused by reduced production of α-globin arising from defects in the α-globin genes. The imbalanced globin chain synthesis leads to an excess of β chains forming tetramers (HbH) that are unstable and causes a phenotype of mild-to-moderate chronic hemolytic anemia (7-10 gm/dL) and splenomegaly. I presume the patient with HbH disease has a large spleen. Does she have evidence of hypersplenism?
Splenectomy should be considered when there is worsening anemia, evidence of hypersplenism, abdominal discomfort, left upper abdominal quadrant pain and early satiety. Possible splenic rupture is also a concern when splenomegaly is massive (reaching suprapubic level). Due to possible post-splenectomy complications, splenectomy should be a last resort. If hypersplenism or abdominal discomfort is a problem, I would use hydroxyurea initially, starting with a low dose (500 mg/day) and titrating upwards (monitoring white cell, platelet, and reticulocyte counts). Hydroxyurea can be very effective in reducing extramedullary hemopoiesis and the splenic size.
The iron overload arises from increased gastrointestinal iron absorption. Removing the spleen will not reduce her iron overload. If anything, the spleen may have a scavenging effect on toxic iron species. I would continue deferasirox and monitor the iron saturation (a better measure of toxic iron). A baseline MRI for liver iron and cardiac iron is recommended and I recommend once- or twice-yearly MRI depending on initial score with ferritin assays for monitoring iron loading in between.
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- Taher AT, Vichinsky E, Musallam KM, Cappellini MD, Viprakasit V eds. Guidelines for the management of non transfusion dependent thalassaemia (NTDT) (ed First). Nicosia, Cyprus: Thalassaemia International Federation; 2013.
- Porter JB, Cappellini MD, Kattamis A, et al. Iron overload across the spectrum of non-transfusion-dependent thalassaemias: role of erythropoiesis, splenectomy and transfusions. Br J Haematol. 2017;176(2):288-299.
- Iolascon A, Andolfo I, Barcellini W, et al. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017;102(8):1304-1313.
- Fucharoen S, Viprakasit V. Hb H disease: clinical course and disease modifiers. Hematology Am Soc Hematol Educ Program. 2009:26-34.
NEXT MONTH'S CLINICAL DILEMMA
A 55-year-old female patient received a diagnosis of chronic-phase chronic myeloid leukemia in April 2016. After treatment with dasatinib 100 mg daily, major molecular response was achieved in January 2017. BCR/ABL1 b2a2 increased to 0.99 percent by June 2017, and dasatinib was increased to 140 mg daily (BCR/ABL1 kinase domain mutation was negative). When BCR/ABL reached 0.27 percent in January 2018, she was changed to nilotinib 300 mg twice a day. BCR/ABL was 0.24 percent in April 2018, and 0.77 percent in June 2018. She is healthy and compliant. What should be done next?
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