Prenatal diagnosis in rare bleeding disorders-An unresolved issue?

Intracranial haemorrhage (ICH) is the most dreadful complication, and the main cause of death among patients with rare bleeding disorders (RBD) and prenatal diagnosis (PND) is a preventative lifesaving program. A total of 39 PNDs were reported in the literature through a search on PubMed, EMBASE, SCOPUS and Web of Science databases, most often for congenital factor (F) XIII and FVII deficiencies and rarely in FX, FV deficiencies and afibrinogenemia. The main cause to request a PND is ICH and related morbidity and mortality. Different molecular methods including direct sequencing and linkage analysis as well as polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for a specific mutation are the most common used methods for PND, while factor assay and combination of molecular and factor assay also were used. In this research, 7 severely affected foetuses were identified during PND including 3 foetuses with FXIII deficiency, 3 with FVII deficiency and 1 with FX deficiency. Out of these 7 cases, intrauterine ICH occurred in 1 case with FXIII deficiency, 1 was electively aborted and 1 case with severe FVII deficiency received intrauterine factor transfusion. Postdelivery ICH was reported for 1 patient with severe FVII deficiency within the first month of life. All other pregnancies were uneventful.

A fetal hemolytic anemia in a child with cytomegalovirus infection.

BACKGROUND: Autoimmune hemolytic anemia is a hematologic disorder that is rarely observed in infants and young children. Most of the cases are associated with viral or bacterial infections. In some cases, AIHA can be characterized by a chronic course and an unsatisfactory control of hemolysis, thus requiring prolonged immunosuppressive therapy. CASE REPORT: Especially in children younger than 2 years of age, the clinical course of the disease may show either resistance to steroids or dependence on high-dose steroids. We report here an infant fatal autoimmune. CONCLUSION: This case suggests that investigation for the presence of CMV infection in infantile AIHA should be considered. Severe hemolysis is rare but could be a potentially life-threatening complication of CMV infection described mostly in immune compromised adults and children.

Evaluation of cardiac function in patients with thalassemia intermedia.

BACKGROUND: Thalassemia intermedia is a variety of beta thalassemia which shows clinical symptoms somewhere between asymptomatic carriers and thalassemia major. Cardiac dysfunctions due to chronic anemia and hemosiderosis are the major causes of death in these patients. The purpose of this study is to evaluate cardiac function in these patients by echocardiography. MATERIALS AND METHODS: This case-control study was conducted on 22 thalassemic patients (mean: 16.5±5.8 years) and 66 healthy individuals (mean:16.07± 2.9years) as a control group from January 2007 to July 2008. There was no sign of cardiac involvement by physical examination, chest x-ray and ECG in patients. Echocardiographic parameters were measured in groups, and finally data was analyzed by SPSS software. RESULTS: The mean of left ventricular myocardial performance index (MPI) (P-value=0.0001) and left ventricular mass index (LVMI) (P-value=0.0001) have statistically significant difference. Mean of interventricular septal dimension in diastole (IVSD), left ventricular posterior wall thickness in diastole (LVPWD), interventricular septal dimension in systole (IVSS) and left ventricular posterior wall dimension in systole (LVPWS) were also statistically significant with a P-value of, 0.002, 0.001, 0.01, 0.003, respectively. Aortic Pre-ejection period/Ejection time (PEP/ET) (P-value=0.009), ejection fraction (EF) (P-value=0.019), fractional shortening (SF) (P-value=0.041), left ventricular isovolumetric contraction time (ICT) (P-value=0.0001) and left ventricular isovolumetric relaxation time (IRT) (P-value=0.0001) were statistically significant. Mean of right ventricular MPI (P-value=0.0001) and IRT (P-value=0.0001) were also significantly different between two groups. Others echocardiographic parameters were not statistically significant (P-value>0.05). CONCLUSION: Heart failures are earlier affected thalassemia intermedia patients compared with control group.

Effect of thyroid dysfunctions on blood cell count and red blood cell indice.

BACKGROUND: Thyroid hormones have a crucial role in metabolism and proliferation of blood cells. Thyroid dysfunction induces different effects on blood cells such as anemia, erythrocytosis leukopenia, thrombocytopenia, and in rare cases causes' pancytopenia. It also alter RBC indices include MCV, MCH, MCHC and RDW. Thus this study attempted to evaluate effect of hypo & hyperthyroidism on blood cell count and RBC indices. MATERIALS AND METHODS: This study performed on 102 patients with hypothyroid (14.1 years), 84 with hyperthyroid (15.6 years) and 118 healthy individuals (15.2 years) as control group. Initially patients TSH level of patients was determined by ELISA method, and then according to TSH ranges (0.3-5.5µIU/mL) patients were divided into two Hyperthyroidism (TSH<0.3µIU/mL) and hypothyroidism (TSH>5.5µIU/mL) groups. Then, complete blood count was measured by cell counter. Finally, obtained results were analyzed by SPSS software. RESULTS: Analyzes of obtained data revealed statistically significant difference between two groups of patients in RBC count, MCH, MCHC, RDW, HB and HCT(P-value<0.05), but the difference was not significant for WBC and PLT counts and MCV (P-value>0.05). CONCLUSION: In case of patients with unknown hematological dysfunctions, must be evaluated for thyroid hormones.

Current understanding in diagnosis and management of factor XIII deficiency.

Factor XIII or "fibrin-stabilizing factor," is a transglutaminase circulates in the blood circulation as a hetero tetramer with two catalytic A subunits and two carrier B subunits. This important coagulation factor has a crucial role in clotting cascade and produces strong covalent bonds between soluble formed fibrin monomers during coagulation. This stable cross linked fibrin strands are resistanttodegradationby thefibrinolyticsystem that enablesthe bodyto stoppotential bleeding episodes. In the absence or severe decrease of factor XIII, although the clot is formed, but is rapidly degraded by the fibrinolytic system, and delayed bleedingoccurs.Factor XIII deficiency is an extremely rare bleeding disorder with estimated incidence of 1/2-3000, 000 in the general population. Presumptive diagnosis of factor XIII deficiency was by clot solubility test in 5M urea or 1% monochloroacetic acid environments. In patients with abnormal screening clot solubility test, the disease can be confirmedbymore specifictestssuch as quantitative factor XIII activity assay andFXIIIAgassay.After diagnosis of disease all patients with severe factor XIII deficiency(<1 U/dl) shouldreceive prophylactic substitution therapywith fresh frozen plasma (FFP) and cryoprecipitate as traditional choices or purified concentrateof blood coagulation factor XIII (Fibrogammin P) inorder to control severe and life-threatening clinical complications of factor XIII deficiency.