Red Blood Cell Exchange in a Patient With Extramedullary Hematopoiesis and Cor Pulmonale Secondary to Beta Thalassemia

  title={Red Blood Cell Exchange in a Patient With Extramedullary Hematopoiesis and Cor Pulmonale Secondary to Beta Thalassemia},
  author={Pallavi Kopparthy and Amar H. Kelkar and Kunal Aggarwal and Samantha De Filippis and Brad Fletcher},
Rationale: Beta thalassemia is a congenital defect in the production of the beta globin chain. Patients with beta thalassemia major will have higher levels of hemoglobin F (HbF), which is suboptimal in releasing oxygen to tissue. Herein, we describe the use of red blood cell (RBC) exchange transfusion, a therapy typically used in sickle cell patients, in the management of a patient with beta thalassemia with extensive extramedullary hematopoiesis and elevated levels of HbF. Patient concerns: A… 

Figures and Tables from this paper



A moderate transfusion regimen may reduce iron loading in beta‐ thalassemia major without producing excessive expansion of erythropoiesis

As compared with hypertransfusion, moderate transfusion may allow more effective prevention of iron loading, with higher likelihood of spontaneous pubertal development and without producing excessive expansion of erythropoiesis.

Pulmonary hypertension and β‐thalassemia major: Report of a case, its treatment, and a review of the literature

A 28‐year‐old man with β‐thalassemia major, splenectomy, hepatitis C, and hemosiderosis who presented with increasing dyspnea on exertion was diagnosed with pulmonary hypertension and after receiving continuous epoprostenol infusion and desferoxamine, his functional capacity and hemodynamic status improved.

Thalassaemia intermedia: the role of erythroexchange in the treatment of an indolent wound.

The difficult healing of a surgical wound in a patient with thalassaemia intermedia is reported and the beneficial effect obtained with erythroexchange that, decreasing the level of haemoglobin F in favour of HbA, improved the oxygen availability in the area and promoted healing.

Pulmonary thromboembolism in thalassemic patients.

Pulmonary thromboembolic lesions were found in 24 of 58 patients with beta-thalassemia/hemoglobin E disease (beta-thal/HbE), including whole lungs from five, 13 patients with hemoglobin H disease (HbH), and eight patients withBeta-thalsemia major (beta) including whole lung from one, with the incidence increasing with age.

Serum erythropoietin and erythropoiesis in high- and low-fetal hemoglobin beta-thalassemia intermedia patients.

It is concluded that HbF exerts an independent regulatory effect on erythropoietin production and eryanthropoiesis that is detectable only when HBF levels exceed 40%.

Exchange blood transfusions for the treatment of leg ulcerations in thalassemia intermedia.

The case of a transfusion-independent thalassemia intermedia patient with high hemoglobin F percentage, who presented with persistent leg ulcerations, is described, which was successfully treated with one-year exchange blood transfusions.

Erythrocytapheresis for chronically transfused children with sickle cell disease: An effective method for maintaining a low hemoglobin S level and reducing iron overload

The results of erythrocytapheresis were reviewed in eight sickle cell patients at high risk for a first or recurrent stroke and they were maintained at the standard pre‐transfusion hemoglobin S level of 30%.

A Phase 3 Trial of Luspatercept in Patients with Transfusion-Dependent β-Thalassemia.

The percentage of patients with transfusion-dependent β-thalassemia who had a reduction in transfusion burden was significantly greater in the luspatercept group than in the placebo group, and few adverse events led to the discontinuation of treatment.


Because of the high carrier rate for HBB mutations in certain populations and the availability of genetic counseling and prenatal diagnosis, population screening is ongoing in several at-risk populations in the Mediterranean.

Effect Of Genotype On Pulmonary Hypertension In Patients With Thalassemia

Genotypes groups were statistically and significantly associated with pulmonary hypertension based on the adjusted odds ratios after adjustment for other factors and should be routinely recommended in patients with β-thalassemia.