Detection of a Rare Haemoglobin Variant- Hbj
during Glycosylated Haemoglobin Analysis-
A Rare Single Case Report
Neelima Verma1* and Jyoti Chakraverty2
1Department of Clinical Biochemistry, Fortis Hospital, India
2Department of Histopathology, Fortis Hospital, India
Submission: March 12, 2018; Published: April 13, 2018
*Corresponding author: Neelima Verma, Department of Clinical Biochemistry, Senior Consultant in Clinical Biochemistry, Fortis Hospital, Shalimar Bagh, India, Email: email@example.com
How to cite this article: Neelima V, Jyoti C. Detection of a Rare Haemoglobin Variant- Hbj during Glycosylated Haemoglobin Analysis- A Rare Single
Case Report. Anatomy Physiol Biochem Int J: 2018; 4(4): 555650. DOI: 10.19080/APBIJ.2018.04.555650.
We report the case of a very rare haemoglobin variant, “Haemoglobin J”, discovered while performing haemoglobin electrophoresis following low HbA1C value reported in pregnant female with Gestational diabetes mellitus. Haemoglobin J is an alpha chain variant and heterozygous group of fast moving Haemoglobin (FMH).
Abbrevations: FMH: Fast Moving Haemoglobin; Hb: Haemoglobin; HCT: Haemocrit; RBC: Red Blood Cell; RWD: Red Cell Distribution Width; MCH: Mean Corpuscular Haemoglobin; MCHC: Mean Corpuscular Hemoglobin Concentration; IBCT: Iron Binding Capacity Total; GTT: Glucose Tolerance Test
Glycosylated Haemoglobin is routinely used to maintain long term glycemic control in diabetic patients . But sometimes HbA1C levels are formed contradicting with plasma glucose levels. This may be because of presence of abnormal and rare haemoglobin HbJ which was first reported in an American Negro family by Thorup et al. . HbJ is fast moving hemoglobin (FMH). This alpha globulin gene variant resulting from substitution of a negatively charged amino acid residue is alpha, beta or gamma globulin chain . HbJ can be differentiated and identified solely from its retention time. Prevalence of Fast Moving Haemoglobin Variant HbJ is very rare. Different authors during epidemiologic investigation in different population did not find any single case of HbJ showing it to be rare variant [4-6]. In a large study of 13,913 individuals of North Americans 524 had abnormal Hb variant but none of the patient had HbJ variant .
Similarly in a study of 9792 cases of Tunisian population only 228 cases (2.33%) were found to be having abnormal Hb Variant but none was having HbJ variant . Although during a large retrospective study (65,779 cases) for screening, detection, and identification of Hb variants within a clinical laboratory setting of India only 46 cases (0.07%) were found to be having HbJ variant  and 10 yr study of hemoglobin variant on 1,19,336 cases
from eastern Indian population only three cases were found to
be having Hb J variant  which shows this variant to be very
rare. Here we report our experience of detection of abnormal Hb variant (HbJ) during further investigation of pregnant female as low HbA1C value was contradicting with high glucose level. It was not a case of Sickle cell disease (SCD) nor had received any blood transfusion.
A 29 years old four and a half months pregnant female with
gestational diabetes mellitus presented to Gynae OPD of Fortis
Hospital, Shalimar Bagh for routine ante natal check up. As a
part of routine investigation Complete Blood Count, GTT, HbA1C
and Iron Profile was advised. EDTA anticoagulated whole blood
specimen collected in Becton Dickinson Vacutainer was analyzed
for CBC, HbA1C and 2 ml blood sample was collected in fluoride
vial for Blood glucose levels. After 2 hours of taking 75gms
glucose her blood glucose levels were on the higher side (blood
glucose- 203mg/dl). Hb (9.8%) was on the lower side with low
haemocrit (32.1), low MCV and MCHC (Table 1). Complete Blood
Count was done on Sysmex XN 550 (L Series). Blood glucose was
performed on Dimension RxL Max series.
Abbreviations: Hb: Haemoglobin; HCT: Haemocrit; RBC: Red Blood
Cell; RWD: Red Cell Distribution Width; MCH: Mean Corpuscular
Haemoglobin; MCHC: Mean Corpuscular Hemoglobin Concentration;
IBCT: Iron Binding Capacity Total; GTT: Glucose Tolerance Test
Family studies, DNA studies and genetic counselling were
advised for the patient from both the laboratories. But as HbJ is
rather clinically silent and our patient had no adverse symptoms
related to abnormal variant. Further characterization of this
haemoglobin variant was not indicated clinically, so molecular
studies were not pursued (Table 5).
HbA1C is used for long term management of patients with DM
type-1 and 2  but wherever the value of HbA1C is discrepant
there is always possibility of abnormal fast moving haemoglobin
. In our patient HbA1C came out to be low in spite of
High glucose levels during antenatal screening indicating the
possibility of abnormal variant. Abnormal haemoglobin like Hb J
which produces no haematological symptoms is rarely detected.
Similarly a case of HbJ-Meerut was detected when pregnant
female came for routine antenatal check up showing falsely low
HbA1C levels not corresponding to their Blood glucose levels.
HPLC analysis for patient’s mother and two younger siblings
showed the presence of same abnormal haemoglobins seen in
patient herself. The mean percentage of this abnormal Hb variant
in these four family members was 19.025 eluted at a retention
time of 1.87-1.90min . During study of abnormal haemoglobin
variant in large Indian Population other authors [13-15] found
out only one case of HbJ Meerut among 232 cases, 543 cases, 290
cases of abnormal hemoglobin variant respectively showing it to
be very rare (Table 6).
HbJ variant which is an alpha chain variant found in
heterozygous state may also be detected via using different
techniques - mass spectrometry. In a study Bhatt, et al. 
identified Variant HbJ - Rajappen using mass spectrometry
technique. Patient being diabetic had blood sugar levels 232
mg/dl but HbA1C level 4.4% indicating presence of abnormal
variant. Upon electrophoresis a p3 Peak with a retention time of
1.3 min and a percentage of 23.4% was found out. This finding is
very much similar to our findings .
Even though hemoglobin variants are prevalent in general
population, reports of transfusion acquired Hb Variants are
rare. Soumya P et al  performed a retrospective analysis
on SCD patients who underwent blood transfusion. 66 patients
were found to be having abnormal Hb Variant and only on
patient had HbJ variant. There are more than 40 HbJ variants
described in the literature. They all have an electrophoretic
mobility faster than the Hb variants. All are classified under
variants of the alpha or beta chains [18-20]. In sickle cell disease
patients due to number of blood transfusion, it is very common
to found abnormal variant. N Sweden et al.  discovered HbJ
variant while performing Hemoglobin electrophoresis following
exchange transfusion of SCD patient after red cell exchange.
The clinical impact of rare hemoglobin variant such as HbJ
when combined with hemoglobin SCD (or trait) is not clear in
the medical literature. Clinical follow up of the patient showed
no complications and the clinical cause was consistent with
the patient’s underlying medical condition. Five units of RBC’s
were donated by two sisters. When hemoglobin electrophoresis
was performed on samples of two sisters they were found to be
having HbJ variant .