Intracranial extramedullary hematopoiesis in β°-thalassemia/hemoglobin E disease

A 27-year-old woman with β-thalassemia/hemoglobin E disease presented with an intracranial mass of 10 × 9 × 1.2 cm firmly attached to the dura and the falx cerebri extending over the central part of both hemispheres, with pressure atrophy of the underlying brain. Histopathologic examination revealed that the mass consisted entirely of hematopoietic cells. We have seen 1,315 cases with β-thalassemia/hemoglobin E, but this was the first case with intracranial extramedullary hematopoietic mass.     

Heterozygous β-thalassemia with thalassemia intermedia phenotype

In this study we investigated the molecular bases of the β-thalassemia intermedia phenotype in six patients belonging to two unrelated families of Sardinian descent. Sequence analysis of the β globin gene from these patients detected, as the sole abnormality, the heterozygosity for the codon 39 nonsense mutation. The Aγ and Gγ promoters as well as the HS2 and HS3 core sequences of the β globin LCR from these patients, did not show any non-polymorphic nucleotide variation from the consensus sequence. One of the parents was heterozygous for codon 39 nonsense mutation but showed the β-thalassemia carrier phenotype; the other was hematologically normal and had an entirely normal β globin gene sequence. In both families, other members showed the typical hematological phenotype, clinically silent, of heterozygous β thalassemia. To explain the thalassemia intermedia phenotype, we postulated the presence of an unknown molecular defect interacting with the β globin gene mutation. Haplotype analysis excluded that this postulated defect lies in the β globin gene cluster. Am. J. Hematol. 57:43–47, 1998. © 1998 Wiley-Liss, Inc.     

Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with hereditary spherocytosis

 Extramedullary hematopoiesis (EMH) is a rare disorder, characterized by the appearance of hematopoietic elements outside of the bone marrow, which occurs in patients with chronic myeloproliferative disorders or congenital hemolytic anemias. We report on a 64-year-old man with hereditary spherocytosis, who presented with anemia, jaundice, intrathoracic EMH, and massive hemothorax. The diagnosis of EMH was established after computer tomography (CT)-guided punctuation of the paravertebral mass. The patient underwent splenectomy and thoracic drainage. After 1 year, the patient is in good health, with normal hemoglobin values, and hemothorax has not recurred. Received: 23 December 1999 / Accepted: 31 May 2000     

An interesting presentation of intrathoracic extramedullary hematopoiesis in a patient with thalassemia intermedia

Extramedullary hematopoiesis (EMH) occurs as a compensatory mechanism for bone marrow dysfunction in severe thalassemia. In addition to the more common locations, such as liver, spleen and lymph nodes, a mass of EMH may occasionally occur in the thorax. Intrathoracic EMH is usually asymptomatic. A 69-year-old woman who initially presented with hematuria, dysuria, and left inguinal pain was found to have paravertebral masses in the thorax. Histopathologic examination of a CT-guided needle aspiration biopsy of the masses showed the presence of trilineage hematopoiesis. We present this unusual case, in which EMH was diagnosed by chance in an elderly patient with no symptoms related to thalassemia.     

Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with thalassemia intermedia

We report the case of a 49-year-old woman with thalassemia intermedia who developed a massive hemothorax due to hemorrhage from a large intrathoracic, paraspinal hematopoietic mass. Thoracotomy was required for initial control of bleeding. Postoperatively she received a total of 1,500 rads to the mass and has not had recurrence of the hemothorax. This complication of extramedullary hematopoiesis has not been previously reported, to our knowledge.     

Presacral extramedullary hematopoiesis: a rare cause of back pain in a patient with thalassemia

Clinical Rheumatology -     

α-Thalassemia and β-thalassemia in a turkish family

A Turkish family is described in which three children have a clinical picture similar to that of thalassemia major, with typical red cell morphology and indices, and with about 10% Hb Bart's but without measurable amounts of Hb H. Hematological evaluation of six members of this family that included in vitro hemoglobin synthesis suggests that β- (or δβ-) thalassemia, β-silent thalassemia, and mild and severe α-thalassemia genes are present in different combinations. The data indicate that β/α chain ratios in patients with more than one type of thalassemia should be evaluated in relationship to values obtained for several relatives even though some of the thalassemia determinants may be silent in the parents.     

A novel mediterranean “δβ-thalassemia” determinant containing the δ+27 and β°39 point mutations in cis

The term δβ-thalassemia with normal HbF has been recently proposed to define heterogenous δ and β globin gene molecular defects involving the same chromosome in cis. Here, we describe a Sardinian family in which three members showing microcytosis, border-line HbA₂ levels and normal HbF proved to be heterozygotes for δ ⁺27 and β°39 point mutations in cis by allele specific oligonucleotyde hybridization as well as by ECO 0 109 I endonuclease digestion and electrophoresis. As some of these β-thalassemia carriers shows normal HbA₂ levels, knowledge of the molecular basis of this novel δβ-thalassemia silent phenotype would be useful in thalassemia screening and genetic counselling. © 1994 Wiley-Liss, Inc.     

A new β0‐thalassemia frameshift mutation [β 48 (‐T)] in a Uruguayan family

We describe here a new frameshift mutation of β‐thalassemia in a Uruguayan family with Italian ancestry [β48 (‐T); HBB:c.146delT]. This frameshift results in formation of premature stop codon (TGA) 40 bp downstream and in a short unstable product that is degraded in the cell.     

Systemic lupus erythematosus with sickle cell/β0‐thalassemia

The coexistence of haemoglobinopathies with systemic lupus erythematosus (SLE) is an occurrence that has been reported infrequently. The symptomatic overlap between the two diseases can make the diagnosis of an SLE flare versus a sickle crisis challenging. The limited reports available do not suggest an association, but the coexistence of the two diseases has been reported to manifest in a more virulent manner necessitating aggressive immunosuppression. The purpose of this report is to highlight the diagnostic challenges faced in a patient with the coexisting diseases, to report the severity and spectrum of the manifestations of SLE in the patient and our experience in treatment of her complications.     

Peripheral T cell receptors αβ and γδ in patients with Hodgkin's lymphoma

Antigen recognition by T cells is determined by an antigen specific T cell receptor (TCR). Two heterodimeric TCR structures associated with CD3 have been defined: TCR αβ and TCR γδ. TCR αβ and its function are well described but the role of TCR γδ in normal and lymphoproliferative disorders is not well established. In newly diagnosed or relapsed/refractory Hodgkin's disease (HD), a disease associated with defective T cell functions and increased sIL-2R, We determined levels of seven TCR αβ variable regions [βV5(a), βV5(b), βV6(a), βV12(a), αβV(a), αV2(a)] and TCR γδ by using monoclonal antibodies (MCA). TCR γδ levels did not show any difference, but several variable regions of the TCR αβ differed when groups are compared with each other and the control group.     

An Individual with Hb-Lepore-Baltimore- δβ-Thalassaemia in a Yugoslavian Family

The clinical, haematological and biochemical findings in a person with δβ-thalassaemia and Hb-Lepore are described. The patient was a 24-year-old student who suffered from anaemia of intermediate seventy with late onset of the clinical manifestations, had minor bone and facial deformities, but had no necessity for regular transfusions. Haemoglobins A and A₂ were absent in this individual, and the Hb-Lepore has been identified as Lepore-Baltimore. Heterogeneity of γ chain of the Hb-F follows the expected pattern. The study provides further evidence that neither β nor δ chains are synthesized in cis to δβ-thalassaemia or Hb-Lepore.     

Effect of combination therapy of hydroxyurea with l‐carnitine and magnesium chloride on hematologic parameters and cardiac function of patients with β‐thalassemia intermedia

Background: l‐Carnitine and magnesium have antioxidant properties. They have the potential to stimulate production of fetal hemoglobin and stabilize the RBC membrane, respectively. Several studies have also shown the beneficial effects of hydroxyurea in thalassemic patients. We assessed the effect of combination therapy of hydroxyurea with l ‐carnitine and magnesium chloride on hematologic parameters and cardiac function of patients with β‐thalassemia intermedia. Methods: One‐hundred‐and‐twenty patients with thalassemia intermedia (range, 4–35 yr; mean, 19 ± 6.4 yr) who had no need for blood transfusion or requirement for blood transfusion with an interval of >6 months were randomly selected. All patients had been on hydroxyurea for >6 months. They were randomly divided into four groups: group A (hydroxyurea alone); group B (hydroxyurea and l ‐carnitine); group C (hydroxyurea and magnesium chloride); and group D (hydroxyurea, l ‐carnitine and magnesium chloride). Results: In groups B, C, and D, mean Hb and hematocrit increased during 6‐month treatment (P < 0.001). Echocardiographic studies revealed a significant decrease in left ventricular end‐diastolic diameter in group B (P = 0.032), increase in pulmonary acceleration time in group C (P = 0.012), and increase in left ventricular ejection fraction in groups C and D (P < 0.000 and 0.006, respectively). Conclusion: Combination of hydroxyurea with l ‐carnitine or magnesium could be more effective in improving hematologic parameters and cardiac status in patients with β‐thalassemia intermedia than hydroxyurea alone.