Stable Family Relationships Associated with Later Onset of Puberty
Ellis and Essex have published data that suggests that girls brought up in a family with higher quality "investment" from their parents and lower reported parental conflict have later onset puberty.
A 5 month old boy is seen because of failure to thrive. As part of the investiagtion the following blood tests are done:
Hb 4.2 g/dl WBC 12.3 x 109/l Plt 211 x 109/l
Haemaglobin electrophoresis:
HbA - 0%
HbA2 - 9%
HbF - 91%
Q1. What is the diagnosis?
Q2. What are the main treatment options?
Beta Thalassaemia Major
1. Regular blood transfusions with iron chelation therapy; or 2. Bone marrow transplantation
The full blood count shows that the baby is severly anaemic (haemaglobin is very low). However the white blood count and the platlets are normal showing that this is a problem of the red cells only. The haemaglobin electrophoresis is very abnormal. A child of this age should predominantly have HbA (normal adult haemaglobin made of 2 alpha chains and 2 beta chains), a small amount of HbF (2 alpha chains and 2 gamma chains), and a small amount of HbA2 (2 alpha chains and 2 delta chains). In beta thalassamia major a genetic defect causes failure of beta chain production. As gamma chain production ceases (a normal function) the child develops symtoms of anaemia. Other features include growth failure, hepatosplenomegaly, jaundice, heart murmurs or heart failure, bony deformities, and feaures of bone marrow hyperplasia such as frontal bossing and the "hair-on-end" appearance on a skull x-ray (see Azam M and Bhatti N. Hair-on-end appearance. Arch Dis Child 2006;91(9):735)
This disease is invariably fatal without treatment. The mainstay of treatment is with regular blood transfusions. This will eventually lead to iron overload and it is important to give iron chelation therapy. More recently, some centres are offering bone marrow transplantation as a curative therapy.
