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Year : 2011  |  Volume : 54  |  Issue : 3  |  Page : 597-598
Chronic myelogenous leukemia in sickle cell/beta 0 -thalassemia

Departments of Pathology and Internal Medicine, King Fahad Hofuf Hospital, Saudi Arabia

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Date of Web Publication20-Sep-2011


Sickle cell/beta 0 -thalassemia (S/β0 -thal) is a compound heterozygous state for βS and β0 thalassemia. There are rare reported cases of patients with sickle cell disease who developed hematological neoplasms including myeloid and lymphoid conditions; however, to the best of our knowledge, chronic myelogenous leukemia (CML) occurring in S/β0 -thal has been reported in one case and this is the second such report.

Keywords: chronic myelogenous leukemia, sickle cell disease, thalassemia

How to cite this article:
Sallam MM, Alsuliman AM, Alahmed HE, Alabdulaali MK. Chronic myelogenous leukemia in sickle cell/beta 0 -thalassemia. Indian J Pathol Microbiol 2011;54:597-8

How to cite this URL:
Sallam MM, Alsuliman AM, Alahmed HE, Alabdulaali MK. Chronic myelogenous leukemia in sickle cell/beta 0 -thalassemia. Indian J Pathol Microbiol [serial online] 2011 [cited 2021 Jul 25];54:597-8. Available from: https://www.ijpmonline.org/text.asp?2011/54/3/597/85107

   Introduction Top

Sickle cell/beta 0 -thalassemia (S/β0 -thal) is a compound heterozygous state for βS and β0 thalassemia. In comparison to sickle cell anemia (SCA), it is characterized by lower rate of hemolysis and longer period of splenomegaly; however, painful crises are more frequent mostly due to the higher hemoglobin concentration. [1] There are rare reported cases of patients with homozygous SCA, or double heterozygous sickle cell disease (SCD) associated with βC or other β variants who developed hematological neoplasms including myeloid and lymphoid conditions; however, to the best of our knowledge, chronic myelogenous leukemia (CML) occurring in S/β0 -thal has been reported in one case [2] and this is the second.

   Case Report Top

A 17-year-old Saudi female; originating from eastern area, who is a known case of S/β0 -thal with frequent episodes of painful crises and had never received hydroxyurea (HU), was presented to our hospital suffering from an acute attack of one of these episodes. On physical examination she was found to have hepatosplenomegaly, which was confirmed by ultrasonography, the tip of the spleen was just felt below the costal margin with deep inspiration. Her complete blood count (CBC) showed red blood cell count (RBC) of 3.65 Χ 10 12 /L, hemoglobin (Hb) 65 g/L, packed cell volume (PCV) 0.21 l/L, mean corpuscular volume (MCV) 56.2 fl, mean corpuscular hemoglobin (MCH) 17.8, mean corpuscular hemoglobin concentration (MCHC) 31.7% and red cell distribution width (RDW) 22.8. Her platelet count was high (1271 Χ 10 9 /L), corrected white blood cell count (WBC) was high (18.3 Χ 10 9 /L) with 38.0% segmented neutrophils, 5.0% band neutrophils, 32.0% lymphocytes, 1.0% monocytes, 8.0% eosinophils, 4.0% basophils, 6.0% metamyelocytes, 5.0% myelocytes, 1.0% promyelocytes and less than 1% blasts. Peripheral blood smear revealed anisopoikilocytosis with sickle cells, polychromasia, microcytosis, hypochromia, many target cells, few elliptocytes and tear drop poikilocytes. Nucleated RBCs were 98 per 100 WBCs [Figure 1]. Previous Hb-electrophoresis by high performance liquid chromatography (HPLC) showed 88.4% Hb-S, 6.6% Hb-F and 5% Hb-A2, the high Hb-A2 level was confirmed by column chromatography which was found to be 4.2%. These findings together with the red cell indices were consistent with S/b0 -thal. By reviewing her previous CBC results over the last four months she was found to have persistently marked thrombocytosis and leucocytosis reaching up to 1673 and 32 Χ 10 9 /L, respectively. Myeloproliferative neoplasm was suspected and bone marrow examination has been carried out which was markedly hypercellular with left shifted granulopoiesis, eosinophilia and less than 1% blasts. Megakaryocytes were markedly increased in number with many micromegakaryocytes, which were seen in clusters [Figure 2]. Genetic evaluation by cytogenetics and molecular studies revealed t(9;22)(q34;q11.2); BCR/ABL fusion gene confirming the diagnosis of CML. The patient treated with imatinib 400 mg daily and achieved transient hematological response due to poor compliance, and went back to the chronic phase of the disease.
Figure 1: Peripheral blood smear showing red cell morphology of S/β°-thal, a myelocyte and thrombocytosis (Wright's stain, x1000)

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Figure 2: Bone marrow aspirate showing left-shifted granulopoiesis with hypogranulation (Wright's stain, x1000). Inset: Trephine biopsy showing hypercellular bone marrow and cluster of megakaryocytes (Hematoxylin and eosin stain, x40)

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   Discussion Top

Hematological neoplasms have been rarely reported in SCD patients since 1938 when the first case of Hodgkin's lymphoma occurred in a SCA patient. [3] Beside Hodgkin's lymphoma, reported neoplasms occurring in SCD patients included acute myeloid leukemia (AML), acute lymphoblastic leukemia, multiple myeloma, malignant histiocytosis, B and T-cell non-Hodgkin's lymphomas namely chronic lymphocytic leukemia, γδ-T cell lymphoma and hairy cell leukemia. [3],[4],[5],[6],[7]8,[9] Most of these conditions occurred in adults with SCA while only very rare cases were encountered in children. Patients with sickle cell trait have been reported to develop such conditions. [6] To our knowledge, CML has been reported in 9 SCD cases, one of which was a case of S/β0 -thal, [2],[3],[4],[5],[6],[7],[8],[9],[10] this makes our report the second in presenting this combination.

The definite linkage between SCD and hematological neoplasms is lacking; however, increased life expectancy of SCD patients with global awareness and improvement in care given to these patients, the increased usage of HU despite its potential leukemogenic effect and transmission or immunomodulation through blood transfusions and/or stem-cell transplantation are possible causes. [9],[10] Many SCD patients have been managed effectively with HU for several years with no reported termination into neoplastic conditions, it's relation with such conditions is warring though. Our case cannot be attributed to any of the previously mentioned possibilities, unless other linkage is identified; in this particular case the combination seems to be incidental or possibly as a result of increased cellular turnover.

Leukoerythroblastosis, persistently increasing WBC and/or platelet counts need to be dealt with cautiously in SCD patients, keeping in mind that hematological neoplasms are differentials that have to be added to the reactive etiologies like hemolysis, infection and post-splenectomy changes, particularly if associated with absolute eosinophilia, basophilia, hepatomegaly or lymphadenopathy. Neutrophil alkaline phosphatase (NAP) score has not been carried out in our case; however, it is of limited benefit as it is expected to be low in SCD patients even without coexistent CML.

   References Top

1.Sonati Mde F, Costa FF. The genetics of blood disorders: Hereditary hemoglobinopathies. J Pediatr (Rio J) 2008;84: S40-51.  Back to cited text no. 1
2.Papayannopoulou T, Bunn HF, Stamatoyannopoulos G. Cellular distribution of hemoglobin F in a clonal hemopoietic stem-cell disorder. N Engl J Med 1978;298:72-5.  Back to cited text no. 2
3.Stricker RB, Linker CA, Crowley TJ, Embury SH. Hematologic malignancy in sickle cell disease: Report of four cases and review of the literature. Am J Hematol 1986;21:223-30.  Back to cited text no. 3
4.Kim HS, Yospur L, Niihara Y. Chronic lymphocytic leukemia in a patient with sickle cell anemia. West J Med 1998;169:114-6.  Back to cited text no. 4
5.Chen L, Zhuang M, Shah HQ, Lin JH. Chronic myelogenous leukemia in sickle cell anemia. Arch Pathol Lab Med 2005;129:423-4.  Back to cited text no. 5
6.Paydas S. Sickle cell anemia and hematological neoplasias. Leuk Lymphoma 2002;43:1431-4.  Back to cited text no. 6
7.Phillips G Jr, Hartman J, Kinney TR, Sokal JE, Kaufman RE. Chronic granulocytic leukemia in a patient with sickle cell anemia. Am J Med 1988;85:567-9.  Back to cited text no. 7
8.Rosner F, Grünwald HW. Chronic granulocytic leukemia in a patient with hemoglobin SC disease. Am J Hematol 1989;31:302.  Back to cited text no. 8
9.Schultz WH, Ware RE. Malignancy in patients with sickle cell disease. Am J Hematol 2003;74:249-53.  Back to cited text no. 9
10.Baron F, Dresse MF, Beguin Y. Transmission of chronic myeloid leukemia through peripheral-blood stem-cell transplantation. N Engl J Med 2003;349:913-4.  Back to cited text no. 10

Correspondence Address:
Mohammed K Alabdulaali
King Fahad Hospital, Hofuf Postal Code: 31982, Hassa
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.85107

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